R38R (p.Arg38Arg) variant of ATP6V1B1 (P15313)
R38R (p.Arg38Arg) in ATP6V1B1 (P15313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R38R (p.Arg38Arg) variant details
- p.Arg38Arg
- gnomAD 2-70936068-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.105
- CADD 3.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available