A27P (p.Ala27Pro) variant of ALDH2 (P05091)
A27P (p.Ala27Pro) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A27P (p.Ala27Pro) variant details
- p.Ala27Pro
- gnomAD 12-111767061-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.18
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available