R56L (p.Arg56Leu) variant of ATP6V1B1 (P15313)
R56L (p.Arg56Leu) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R56L (p.Arg56Leu) variant details
- p.Arg56Leu
- gnomAD 2-70943706-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.33
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available