I64V (p.Ile64Val) variant of ATP6V1A (P38606)
I64V (p.Ile64Val) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
I64V (p.Ile64Val) variant details
- p.Ile64Val
- ESP rs140326941
- TOPMed rs140326941
- gnomAD rs140326941
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.42
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available