S59C (p.Ser59Cys) variant of APOA5 (Apolipoprotein A-V)
S59C (p.Ser59Cys) in APOA5 (Apolipoprotein A-V) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S59C (p.Ser59Cys) variant details
- p.Ser59Cys
- rs1565325286
- gnomAD 11-116791144-CTG-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 6.09
- Most common in the East Asian population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available