S9I (p.Ser9Ile) variant of ALDH5A1 (P51649)
S9I (p.Ser9Ile) in ALDH5A1 (P51649) 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.
S9I (p.Ser9Ile) variant details
- p.Ser9Ile
- gnomAD 6-24495022-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.17
- CADD 15.80
- PolyPhen-2 0.03
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available