E44E (p.Glu44Glu) variant of BAX (Apoptosis regulator BAX)
E44E (p.Glu44Glu) in BAX (Apoptosis regulator BAX) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E44E (p.Glu44Glu) variant details
- p.Glu44Glu
- rs763131347
- gnomAD 19-48955732-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.361
- CADD 13.70
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available