V88A (p.Val88Ala) variant of ATP6V1A (P38606)
V88A (p.Val88Ala) in ATP6V1A (P38606) 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 0.59 / 1. The record also includes population frequency data and structural context.
V88A (p.Val88Ala) variant details
- p.Val88Ala
- rs760842074
- NCI-TCGA Cosmic COSV5636
- ExAC rs760842074
- gnomAD rs760842074
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.54
- CADD 27.90
- PolyPhen-2 0.88
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available