R13P (p.Arg13Pro) variant of ALDH5A1 (P51649)
R13P (p.Arg13Pro) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R13P (p.Arg13Pro) variant details
- p.Arg13Pro
- gnomAD 6-24495034-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.14
- CADD 2.10
- PolyPhen-2 0.00
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available