T3N (p.Thr3Asn) variant of ALDH5A1 (P51649)
T3N (p.Thr3Asn) 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.
T3N (p.Thr3Asn) variant details
- p.Thr3Asn
- gnomAD 6-24495004-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.23
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available