S78C (p.Ser78Cys) variant of APOA5 (Apolipoprotein A-V)
S78C (p.Ser78Cys) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S78C (p.Ser78Cys) variant details
- p.Ser78Cys
- gnomAD 11-116791102-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0847
- CADD 5.23
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available