T22I (p.Thr22Ile) variant of BAX (Apoptosis regulator BAX)
T22I (p.Thr22Ile) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T22I (p.Thr22Ile) variant details
- p.Thr22Ile
- gnomAD 19-48955578-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.15
- MetaLR 0.13
- MetaSVM -0.98
- CADD 24.60
- PolyPhen-2 0.38
- SIFT 1.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available