S80R (p.Ser80Arg) variant of APOA5 (Apolipoprotein A-V)
S80R (p.Ser80Arg) in APOA5 (Apolipoprotein A-V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
S80R (p.Ser80Arg) variant details
- p.Ser80Arg
- 1000Genomes rs565510415
- ExAC rs565510415
- TOPMed rs565510415
- gnomAD rs565510415
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.0772
- REVEL 0.08
- CADD 0.67
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available