L50V (p.Leu50Val) variant of ATP6V1A (P38606)
L50V (p.Leu50Val) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L50V (p.Leu50Val) variant details
- p.Leu50Val
- ExAC rs771765985
- gnomAD rs771765985
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.77
- CADD 22.00
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available