L15Q (p.Leu15Gln) variant of ATP6V0A4 (Q9HBG4)
L15Q (p.Leu15Gln) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
L15Q (p.Leu15Gln) variant details
- p.Leu15Gln
- gnomAD rs1374810796
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.91
- MetaSVM 1.06
- CADD 26.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available