R56P (p.Arg56Pro) variant of ATP6V1B1 (P15313)
R56P (p.Arg56Pro) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R56P (p.Arg56Pro) variant details
- p.Arg56Pro
- gnomAD 2-70943706-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.48
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available