R335W (p.Arg335Trp) variant of LMNA (Prelamin-A/C)
R335W (p.Arg335Trp) 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 LMNA-related disorder; Familial partial lipodystrophy, Dunnigan type; Restrictiv. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R335W (p.Arg335Trp) variant details
- p.Arg335Trp
- rs386134243
- ClinGen CA016426
- ClinVar RCV000030145
- ClinVar RCV000182368
- Pathogenic/Likely pathogenic
- LMNA-related disorder; Familial partial lipodystrophy, Dunnigan type; Restrictiv
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.59
- CADD 31.00
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (LMNA-related disorder; Familial partial lipodystrophy, Dunnigan)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Cited in: Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly. (PMID 27723096)
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)