E44V (p.Glu44Val) variant of BAX (Apoptosis regulator BAX)
E44V (p.Glu44Val) 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.
E44V (p.Glu44Val) variant details
- p.Glu44Val
- cosmic curated COSV10735
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.20
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available