V180E (p.Val180Glu) variant of APOA1 (Apolipoprotein A-I)
V180E (p.Val180Glu) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypoalphalipoproteinemia, primary, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
V180E (p.Val180Glu) variant details
- p.Val180Glu
- rs121912727
- ClinGen CA127580
- ClinVar RCV004555843
- UniProt VAR 021362
- Pathogenic
- Hypoalphalipoproteinemia, primary, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.90
- MetaLR 0.65
- MetaSVM 0.45
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Hypoalphalipoproteinemia, primary, 2)
- EBI: Pathogenic (in Oita)
- UniProt: Pathogenic (in Oita)
- Structural context available
- Cited in: A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency. (PMID 9514407)