E6S (p.Glu6Ser) variant of BAX (Apoptosis regulator BAX)
E6S (p.Glu6Ser) in BAX (Apoptosis regulator BAX) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E6S (p.Glu6Ser) variant details
- p.Glu6Ser
- gnomAD 19-48954940-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.48
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available