L7P (p.Leu7Pro) variant of ALDH5A1 (P51649)
L7P (p.Leu7Pro) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- gnomAD 6-24495016-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.43
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available