L15P (p.Leu15Pro) variant of ATP6V0A4 (Q9HBG4)
L15P (p.Leu15Pro) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
L15P (p.Leu15Pro) variant details
- p.Leu15Pro
- gnomAD rs1374810796
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.06
- CADD 26.70
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available