A5S (p.Ala5Ser) variant of ALDH2 (P05091)
A5S (p.Ala5Ser) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- gnomAD 12-111766995-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.16
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available