Table 3 Population frequencies and predictions for the novel variant c.597delG (p.Glu199AspfsTer3)
Population databases | Values | Descriptions |
|---|---|---|
gnomAD exome: | No match in gnomAD exome | v2.0.1 Exomes global MAF |
gnomAD genome: | No match in gnomAD genome | v2.0.1 Genomes global MAF |
gnomAD v3: | No match in gnomADv3 | v3 Genomes global MAF |
dbSNP rsid: | No match in dbSNP v154 | Identifier for NCBI dbSNP |
Clinvar: | No match in Clinvar v20220702 | Clinvar interpretation |
LOVD Matches: | No match in LOVD public instances | LOVD match in public instances |
Features | Values | Descriptions |
|---|---|---|
Overall predictions | ||
CADD raw: | No match in CADD v1.6 | [-6.41;35.5] The higher the less likely to be observed |
CADD phred: | No match in CADD v1.6 | Phred-like scaling of raw score |
Eigen raw: | None | [-3.33;6.84] The higher the less likely to be observed |
Eigen phred: | None | Phred-like scaling of raw score |
MPA score: | 10 | Raw score [0;10], 10: high impact |
MPA impact: | Frameshift | Impact type |