L198S (p.Leu198Ser) variant of APOA1 (Apolipoprotein A-I)
L198S (p.Leu198Ser) 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 0.65 / 1. The record also includes published literature and structural context.
L198S (p.Leu198Ser) variant details
- p.Leu198Ser
- rs121912729
- ClinGen CA127589
- ClinVar RCV004555846
- Ensembl rs121912729
- Pathogenic
- Familial amyloid polyneuropathy, Iowa type
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- AlphaMissense 0.87
- MetaLR 0.59
- MetaSVM -0.27
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic (Familial amyloid polyneuropathy, Iowa type)
- EBI: Pathogenic (in AMYLD3)
- UniProt: Pathogenic (in AMYLD3)
- Structural context available
- Cited in: The new apolipoprotein A-I variant leu(174) --> Ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are… (PMID 10487826)
- Cited in: A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis. (PMID 10198255)