L80V (p.Leu80Val) variant of ATP6V1A (P38606)
L80V (p.Leu80Val) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L80V (p.Leu80Val) variant details
- p.Leu80Val
- gnomAD 3-113784250-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.17
- AlphaMissense 0.43
- MetaLR 0.42
- MetaSVM -0.18
- CADD 21.50
- PolyPhen-2 1.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available