H36Y (p.His36Tyr) variant of ATP6V1B1 (P15313)
H36Y (p.His36Tyr) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
H36Y (p.His36Tyr) variant details
- p.His36Tyr
- gnomAD 2-70936060-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.43
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available