L10V (p.Leu10Val) variant of ATP6V1A (P38606)
L10V (p.Leu10Val) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L10V (p.Leu10Val) variant details
- p.Leu10Val
- gnomAD 3-113778781-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.18
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available