L84R (p.Leu84Arg) variant of APOA1 (Apolipoprotein A-I)
L84R (p.Leu84Arg) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L84R (p.Leu84Arg) variant details
- p.Leu84Arg
- rs121912724
- ClinGen CA127569
- ClinVar RCV004555838
- UniProt VAR 000610
- Pathogenic
- Familial amyloid polyneuropathy, Iowa type
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.65
- CADD 24.30
- PolyPhen-2 0.96
- SIFT 0.00
- 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: Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. (PMID 1502149)
- Cited in: Inherited predisposition to generalized amyloidosis. Clinical and pathological study of a family with neuropathy… (PMID 4304452)