H36R (p.His36Arg) variant of ATP6V1B1 (P15313)
H36R (p.His36Arg) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
H36R (p.His36Arg) variant details
- p.His36Arg
- gnomAD 2-70936061-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.15
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available