P37S (p.Pro37Ser) variant of ATP6V1B1 (P15313)
P37S (p.Pro37Ser) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
P37S (p.Pro37Ser) variant details
- p.Pro37Ser
- gnomAD 2-70936063-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.61
- CADD 24.90
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available