H36P (p.His36Pro) variant of ATP6V1B1 (P15313)
H36P (p.His36Pro) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
H36P (p.His36Pro) variant details
- p.His36Pro
- Ensembl rs1572903350
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.46
- CADD 22.30
- PolyPhen-2 0.07
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available