R42K (p.Arg42Lys) variant of ATP6V1B1 (P15313)
R42K (p.Arg42Lys) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R42K (p.Arg42Lys) variant details
- p.Arg42Lys
- gnomAD 2-70943664-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.25
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.68
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available