S18T (p.Ser18Thr) variant of ALDH2 (P05091)
S18T (p.Ser18Thr) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S18T (p.Ser18Thr) variant details
- p.Ser18Thr
- gnomAD 12-111767034-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.12
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available