A39D (p.Ala39Asp) variant of APOC3 (Apolipoprotein C-III)
A39D (p.Ala39Asp) in APOC3 (Apolipoprotein C-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
A39D (p.Ala39Asp) variant details
- p.Ala39Asp
- rs773670132
- ClinGen CA6289659
- ClinVar RCV003310166
- ClinVar RCV005240740
- Conflicting interpretations
- not specified; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.59
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available