A10T (p.Ala10Thr) variant of APOC3 (Apolipoprotein C-III)
A10T (p.Ala10Thr) 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; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- ESP rs150821374
- ExAC rs150821374
- TOPMed rs150821374
- gnomAD rs150821374
- Conflicting interpretations
- not specified; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.06
- CADD 9.13
- PolyPhen-2 0.02
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available