P37H (p.Pro37His) variant of ATP6V1B1 (P15313)
P37H (p.Pro37His) 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.
P37H (p.Pro37His) variant details
- p.Pro37His
- gnomAD 2-70936064-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.63
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available