E44D (p.Glu44Asp) variant of BAX (Apoptosis regulator BAX)
E44D (p.Glu44Asp) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E44D (p.Glu44Asp) variant details
- p.Glu44Asp
- ExAC rs763131347
- gnomAD rs763131347
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.19
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available