R482W (p.Arg482Trp) variant of LMNA (Prelamin-A/C)
R482W (p.Arg482Trp) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R482W (p.Arg482Trp) variant details
- p.Arg482Trp
- rs57920071
- ClinGen CA017258
- cosmic curated COSV61542
- ClinVar RCV000015579
- Pathogenic/Likely pathogenic
- Familial partial lipodystrophy, Dunnigan type; Hutchinson-Gilford syndrome; Hear
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.83
- MetaSVM 0.82
- CADD 32.00
- ClinVar: Pathogenic/Likely pathogenic (Familial partial lipodystrophy, Dunnigan type; Hutchinson-Gilfor)
- EBI: Pathogenic (in FPLD2)
- UniProt: Pathogenic (in FPLD2)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. (PMID 10655060)
- Cited in: Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent… (PMID 10739751)