K50R (p.Lys50Arg) variant of ATP6V0A4 (Q9HBG4)
K50R (p.Lys50Arg) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K50R (p.Lys50Arg) variant details
- p.Lys50Arg
- ExAC rs749309505
- gnomAD rs749309505
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.26
- ESM-1b 0.13
- AlphaMissense 0.09
- MetaLR 0.41
- MetaSVM -0.52
- CADD 22.10
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available