R13L (p.Arg13Leu) variant of ALDH5A1 (P51649)
R13L (p.Arg13Leu) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R13L (p.Arg13Leu) variant details
- p.Arg13Leu
- cosmic curated COSV62372
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.14
- MetaLR 0.06
- MetaSVM -1.06
- CADD 1.73
- PolyPhen-2 0.00
- SIFT 0.47
- Population evidence available
- Structural context available