G183A (p.Gly183Ala) variant of APOE (Apolipoprotein E)
G183A (p.Gly183Ala) in APOE (Apolipoprotein E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial type 3 hyperlipoproteinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
G183A (p.Gly183Ala) variant details
- p.Gly183Ala
- rs2122137937
- ClinGen CA406304233
- ClinVar RCV001837071
- Ensembl rs2122137937
- Likely pathogenic
- Familial type 3 hyperlipoproteinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- AlphaMissense 0.19
- MetaLR 0.59
- MetaSVM 0.28
- PolyPhen-2 1.00
- SIFT 0.11
- EVE 0.61
- ClinVar: Likely pathogenic (Familial type 3 hyperlipoproteinemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)