P51H (p.Pro51His) variant of BAX (Apoptosis regulator BAX)
P51H (p.Pro51His) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P51H (p.Pro51His) variant details
- p.Pro51His
- ExAC rs755115250
- TOPMed rs755115250
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.06
- CADD 22.80
- PolyPhen-2 0.74
- SIFT 0.13
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available