R173P (p.Arg173Pro) variant of APOA1 (Apolipoprotein A-I)
R173P (p.Arg173Pro) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
R173P (p.Arg173Pro) variant details
- p.Arg173Pro
- rs387906571
- ClinGen CA127586
- ClinVar RCV004555845
- Ensembl rs387906571
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- AlphaMissense 0.92
- MetaLR 0.65
- MetaSVM 0.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (Familial amyloid polyneuropathy, Iowa type)
- EBI: Pathogenic (in AMYLD3)
- UniProt: Pathogenic (in AMYLD3)
- Structural context available
- Cited in: A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis. (PMID 10198255)
- Cited in: The new apolipoprotein A-I variant leu(174) --> Ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are… (PMID 10487826)