R44G (p.Arg44Gly) variant of ATP6V1A (P38606)
R44G (p.Arg44Gly) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R44G (p.Arg44Gly) variant details
- p.Arg44Gly
- gnomAD 3-113781097-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.54
- CADD 26.20
- PolyPhen-2 0.89
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available