Q119R (p.Gln119Arg) variant of ATP6V0A4 (Q9HBG4)
Q119R (p.Gln119Arg) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
Q119R (p.Gln119Arg) variant details
- p.Gln119Arg
- gnomAD rs1563008576
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.21
- MetaSVM -0.88
- CADD 17.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available