L157P (p.Leu157Pro) variant of ATP6V0A4 (Q9HBG4)
L157P (p.Leu157Pro) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L157P (p.Leu157Pro) variant details
- p.Leu157Pro
- gnomAD rs1261966753
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.75
- ESM-1b 0.00
- AlphaMissense 0.65
- MetaLR 0.76
- MetaSVM 0.59
- CADD 25.90
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available