A12S (p.Ala12Ser) variant of ALDH5A1 (P51649)
A12S (p.Ala12Ser) in ALDH5A1 (P51649) 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.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- gnomAD 6-24495030-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.16
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available