R377H (p.Arg377His) variant of LMNA (Prelamin-A/C)
R377H (p.Arg377His) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial partial lipodystrophy, Dunnigan type; Hutchinson-Gilford syndrome; Hear. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
R377H (p.Arg377His) variant details
- p.Arg377His
- rs61672878
- ClinGen CA016651
- cosmic curated COSV61542
- ClinVar RCV000057235
- Pathogenic
- Familial partial lipodystrophy, Dunnigan type; Hutchinson-Gilford syndrome; Hear
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Familial partial lipodystrophy, Dunnigan type; Hutchinson-Gilfor)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Structural context available
- Cited in: Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with… (PMID 10814726)
- Cited in: Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. (PMID 12628721)