P37L (p.Pro37Leu) variant of ATP6V1B1 (P15313)
P37L (p.Pro37Leu) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- gnomAD 2-70936064-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.74
- CADD 25.60
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available