S80Y (p.Ser80Tyr) variant of APOA5 (Apolipoprotein A-V)
S80Y (p.Ser80Tyr) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S80Y (p.Ser80Tyr) variant details
- p.Ser80Tyr
- gnomAD 11-116791071-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- CADD 15.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available