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Table 2 List of the completely deleterious variants observed in the human LEP gene by extensive prediction approach

From: D76V, L161R, and C117S are the most pathogenic amino acid substitutions with several dangerous consequences on leptin structure, function, and stability

  Amino acid substitution (SNP ID)
ToolParameterD76V
(rs1332916395)
C117S
(rs1051206328)
L161R
(rs771956117)
SIFTScore000
 PredictionDeleteriousDeleteriousDeleterious
PolyPhen2Score1.0001.0001.000
 PredictionProbably damagingProbably damagingProbably damaging
REVELScore0.6480.7770.771
 PredictionDeleteriousDeleteriousDeleterious
MetaLRScore0.5690.8390.509
 PredictionDeleteriousDeleteriousDeleterious
PROVEANScore-5.78-8.46-4.03
 PredictionDeleteriousDeleteriousDeleterious
PANTHERScore220220220
 PredictionProbably damagingProbably damagingProbably damaging
SNAP2Score707281
 PredictionEffectEffectEffect
SNPs&GoScore771
 PredictionDiseaseDiseaseDisease
PhD SNPScore553
 PredictionDiseaseDiseaseDisease
CUPSATScore (kcal/mol)-1.5-1.71-2.91
 PredictionDecrease stabilityDecrease stabilityDecrease stability