W6R (p.Trp6Arg) variant of ALDH5A1 (P51649)
W6R (p.Trp6Arg) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
W6R (p.Trp6Arg) variant details
- p.Trp6Arg
- gnomAD 6-24495012-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.14
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.99
- Population evidence available
- Structural context available
- Literature evidence available