L86V (p.Leu86Val) variant of ATP6V1A (P38606)
L86V (p.Leu86Val) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L86V (p.Leu86Val) variant details
- p.Leu86Val
- gnomAD 3-113784268-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.43
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available