A21P (p.Ala21Pro) variant of ALDH2 (P05091)
A21P (p.Ala21Pro) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A21P (p.Ala21Pro) variant details
- p.Ala21Pro
- gnomAD 12-111767043-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.28
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available