R8R (p.Arg8Arg) variant of ATP6V1B1 (P15313)
R8R (p.Arg8Arg) in ATP6V1B1 (P15313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R8R (p.Arg8Arg) variant details
- p.Arg8Arg
- gnomAD 2-70935976-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 9.39
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available