D48T (p.Asp48Thr) variant of BAX (Apoptosis regulator BAX)
D48T (p.Asp48Thr) in BAX (Apoptosis regulator BAX) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D48T (p.Asp48Thr) variant details
- p.Asp48Thr
- gnomAD 19-48955740-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 26.20
- Population evidence available
- Structural context available
- Literature evidence available