A13V (p.Ala13Val) variant of ID3 (Q02535)
A13V (p.Ala13Val) in ID3 (Q02535) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- rs777214087
- ExAC rs777214087
- TOPMed rs777214087
- gnomAD rs777214087
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.21
- MetaLR 0.27
- MetaSVM -0.72
- CADD 23.60
- PolyPhen-2 0.57
- SIFT 0.32
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available