A2P (p.Ala2Pro) variant of ALDH5A1 (P51649)
A2P (p.Ala2Pro) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- gnomAD 6-24495000-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.48
- CADD 25.30
- PolyPhen-2 0.50
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available