L124V (p.Leu124Val) variant of ATP6V0A4 (Q9HBG4)
L124V (p.Leu124Val) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
L124V (p.Leu124Val) variant details
- p.Leu124Val
- gnomAD rs1411998513
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.43
- MetaLR 0.75
- MetaSVM 0.66
- CADD 24.20
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available