A4P (p.Ala4Pro) variant of ALDH2 (P05091)
A4P (p.Ala4Pro) 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.
A4P (p.Ala4Pro) variant details
- p.Ala4Pro
- gnomAD 12-111766992-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.21
- CADD 20.10
- PolyPhen-2 0.15
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available