D181G (p.Asp181Gly) variant of APOA1 (Apolipoprotein A-I)
D181G (p.Asp181Gly) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypoalphalipoproteinemia, primary, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes structural context.
D181G (p.Asp181Gly) variant details
- p.Asp181Gly
- rs2134230655
- ClinGen CA382715274
- ClinVar RCV001837078
- Ensembl rs2134230655
- Likely pathogenic
- Hypoalphalipoproteinemia, primary, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- AlphaMissense 0.30
- MetaLR 0.52
- MetaSVM -0.05
- PolyPhen-2 0.81
- SIFT 0.00
- EVE 0.52
- ClinVar: Likely pathogenic (Hypoalphalipoproteinemia, primary, 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available