R8Q (p.Arg8Gln) variant of ALDH5A1 (P51649)
R8Q (p.Arg8Gln) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- Ensembl rs1764658487
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.11
- MetaLR 0.12
- MetaSVM -0.95
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.24
- Population evidence available
- Structural context available