R38G (p.Arg38Gly) variant of ATP6V1B1 (P15313)
R38G (p.Arg38Gly) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R38G (p.Arg38Gly) variant details
- p.Arg38Gly
- gnomAD 2-70936066-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.65
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available