I31T (p.Ile31Thr) variant of BAX (Apoptosis regulator BAX)
I31T (p.Ile31Thr) in BAX (Apoptosis regulator BAX) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
I31T (p.Ile31Thr) variant details
- p.Ile31Thr
- rs1362721061
- gnomAD 19-48955691-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.564
- CADD 29.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available