G79R (p.Gly79Arg) variant of APOA5 (Apolipoprotein A-V)
G79R (p.Gly79Arg) in APOA5 (Apolipoprotein A-V) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G79R (p.Gly79Arg) variant details
- p.Gly79Arg
- cosmic curated COSV10455
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.15
- CADD 14.90
- PolyPhen-2 0.03
- SIFT 0.34
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available