T11A (p.Thr11Ala) variant of APOE (Apolipoprotein E)
T11A (p.Thr11Ala) in APOE (Apolipoprotein E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Lipoprotein glomerulopathy; Familial type 3 hyperlipoproteinemia; Cardiovascular. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T11A (p.Thr11Ala) variant details
- p.Thr11Ala
- rs144354013
- ClinGen CA9505931
- ClinVar RCV002468440
- ClinVar RCV005692483
- Conflicting interpretations
- Lipoprotein glomerulopathy; Familial type 3 hyperlipoproteinemia; Cardiovascular
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.25
- CADD 0.29
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Conflicting classifications of pathogenicity (Lipoprotein glomerulopathy; Familial type 3 hyperlipoproteinemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)