R42S (p.Arg42Ser) variant of ATP6V1B1 (P15313)
R42S (p.Arg42Ser) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R42S (p.Arg42Ser) variant details
- p.Arg42Ser
- gnomAD 2-70943665-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.33
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available