W498C (p.Trp498Cys) variant of LMNA (Prelamin-A/C)
W498C (p.Trp498Cys) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary familial dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
W498C (p.Trp498Cys) variant details
- p.Trp498Cys
- rs57730570
- ClinGen CA017364
- ClinVar RCV000057312
- ClinVar RCV000624578
- Likely pathogenic
- Primary familial dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Primary familial dilated cardiomyopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)