T22S (p.Thr22Ser) variant of BAX (Apoptosis regulator BAX)
T22S (p.Thr22Ser) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T22S (p.Thr22Ser) variant details
- p.Thr22Ser
- gnomAD 19-48955577-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.10
- MetaLR 0.13
- MetaSVM -1.03
- CADD 23.80
- PolyPhen-2 0.28
- SIFT 0.11
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available