G50R (p.Gly50Arg) variant of APOA1 (Apolipoprotein A-I)
G50R (p.Gly50Arg) 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; Hypoalphalipoproteinemia, primary, 2, inte. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G50R (p.Gly50Arg) variant details
- p.Gly50Arg
- rs28931574
- ClinGen CA127561
- ClinVar RCV000019506
- ClinVar RCV003556050
- Pathogenic
- Hypoalphalipoproteinemia, primary, 2; Hypoalphalipoproteinemia, primary, 2, inte
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- AlphaMissense 0.12
- MetaLR 0.48
- MetaSVM -0.00
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.25
- ClinVar: Pathogenic (Hypoalphalipoproteinemia, primary, 2; Hypoalphalipoproteinemia,)
- EBI: Pathogenic (in AMYLD3)
- UniProt: Pathogenic (in AMYLD3)
- Population evidence available
- Structural context available
- Cited in: Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. (PMID 12050338)
- Cited in: A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy. (PMID 2123470)