R7P (p.Arg7Pro) variant of ALDH2 (P05091)
R7P (p.Arg7Pro) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R7P (p.Arg7Pro) variant details
- p.Arg7Pro
- gnomAD 12-111767002-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.19
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available