I5S (p.Ile5Ser) variant of ALDH5A1 (P51649)
I5S (p.Ile5Ser) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
I5S (p.Ile5Ser) variant details
- p.Ile5Ser
- gnomAD 6-24495010-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.17
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available