R63K (p.Arg63Lys) variant of ATP6V0A4 (Q9HBG4)
R63K (p.Arg63Lys) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R63K (p.Arg63Lys) variant details
- p.Arg63Lys
- Ensembl rs1584939923
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.47
- MetaLR 0.72
- MetaSVM 0.51
- CADD 23.90
- Population evidence available
- Structural context available