P37R (p.Pro37Arg) variant of ATP6V1B1 (P15313)
P37R (p.Pro37Arg) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P37R (p.Pro37Arg) variant details
- p.Pro37Arg
- gnomAD 2-70936064-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.63
- CADD 25.30
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available