T14M (p.Thr14Met) variant of APOA1 (Apolipoprotein A-I)
T14M (p.Thr14Met) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Familial visceral amyloidosis, Ostertag. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
T14M (p.Thr14Met) variant details
- p.Thr14Met
- rs778560581
- ClinGen CA6289928
- cosmic curated COSV52635
- ClinVar RCV000779743
- Uncertain significance
- Cardiovascular phenotype; not provided; Familial visceral amyloidosis, Ostertag
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.45
- CADD 32.00
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Familial visceral amyloi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00016)
- Structural context available
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)