A24T (p.Ala24Thr) variant of ALDH2 (P05091)
A24T (p.Ala24Thr) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A24T (p.Ala24Thr) variant details
- p.Ala24Thr
- gnomAD 12-111767052-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.17
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available