T22I (p.Thr22Ile) variant of ALDH2 (P05091)
T22I (p.Thr22Ile) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T22I (p.Thr22Ile) variant details
- p.Thr22Ile
- gnomAD 12-111767047-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.13
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available