R40M (p.Arg40Met) variant of APOA5 (Apolipoprotein A-V)
R40M (p.Arg40Met) in APOA5 (Apolipoprotein A-V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R40M (p.Arg40Met) variant details
- p.Arg40Met
- rs148778842
- ClinGen CA6289155
- ClinVar RCV002909711
- ClinVar RCV003324054
- Conflicting interpretations
- not specified; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.24
- CADD 3.39
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GWD population (allele frequency 0.022)
- Structural context available