L7Q (p.Leu7Gln) variant of ALDH5A1 (P51649)
L7Q (p.Leu7Gln) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L7Q (p.Leu7Gln) variant details
- p.Leu7Gln
- gnomAD 6-24495016-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.45
- CADD 24.00
- PolyPhen-2 0.22
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available