P51A (p.Pro51Ala) variant of BAX (Apoptosis regulator BAX)
P51A (p.Pro51Ala) in BAX (Apoptosis regulator BAX) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P51A (p.Pro51Ala) variant details
- p.Pro51Ala
- ExAC rs751621424
- TOPMed rs751621424
- gnomAD rs751621424
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.03
- CADD 18.90
- PolyPhen-2 0.04
- SIFT 0.24
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available