A5P (p.Ala5Pro) variant of ALDH2 (P05091)
A5P (p.Ala5Pro) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A5P (p.Ala5Pro) variant details
- p.Ala5Pro
- gnomAD 12-111766995-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.26
- CADD 18.90
- PolyPhen-2 0.08
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available