R40G (p.Arg40Gly) variant of APOA5 (Apolipoprotein A-V)
R40G (p.Arg40Gly) in APOA5 (Apolipoprotein A-V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R40G (p.Arg40Gly) variant details
- p.Arg40Gly
- rs1057522953
- ClinGen CA16606153
- cosmic curated COSV99068
- ClinVar RCV000439005
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.08
- CADD 16.10
- PolyPhen-2 0.06
- SIFT 0.40
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available