A50S (p.Ala50Ser) variant of APOA5 (Apolipoprotein A-V)
A50S (p.Ala50Ser) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A50S (p.Ala50Ser) variant details
- p.Ala50Ser
- TOPMed rs1475374795
- gnomAD rs1475374795
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.14
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available