R8K (p.Arg8Lys) variant of ATP6V1B1 (P15313)
R8K (p.Arg8Lys) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R8K (p.Arg8Lys) variant details
- p.Arg8Lys
- gnomAD 2-70935977-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.31
- CADD 20.70
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available