A199P (p.Ala199Pro) variant of APOA1 (Apolipoprotein A-I)
A199P (p.Ala199Pro) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial amyloid polyneuropathy, Iowa type. 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.
A199P (p.Ala199Pro) variant details
- p.Ala199Pro
- rs121912730
- ClinGen CA127592
- ClinVar RCV004555847
- ExAC rs121912730
- Pathogenic
- Familial amyloid polyneuropathy, Iowa type
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.52
- CADD 23.60
- PolyPhen-2 0.58
- SIFT 0.02
- ClinVar: Pathogenic (Familial amyloid polyneuropathy, Iowa type)
- EBI: Pathogenic (in AMYLD3)
- UniProt: Pathogenic (in AMYLD3)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis. (PMID 10198255)
- Cited in: Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. (PMID 12050338)