R23P (p.Arg23Pro) variant of ALDH5A1 (P51649)
R23P (p.Arg23Pro) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R23P (p.Arg23Pro) variant details
- p.Arg23Pro
- gnomAD 6-24495064-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.17
- MetaLR 0.12
- MetaSVM -0.92
- CADD 12.40
- PolyPhen-2 0.03
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available