M26R (p.Met26Arg) variant of ATP6V1B1 (P15313)
M26R (p.Met26Arg) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
M26R (p.Met26Arg) variant details
- p.Met26Arg
- gnomAD 2-70936031-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.21
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available