R51C (p.Arg51Cys) variant of APOA5 (Apolipoprotein A-V)
R51C (p.Arg51Cys) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
R51C (p.Arg51Cys) variant details
- p.Arg51Cys
- gnomAD 11-116791141-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.045
- CADD 0.43
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available