R190W (p.Arg190Trp) variant of LMNA (Prelamin-A/C)
R190W (p.Arg190Trp) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; LMNA-related disorder; Charcot-Marie-Tooth disease typ. 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.
R190W (p.Arg190Trp) variant details
- p.Arg190Trp
- rs59026483
- ClinGen CA018245
- ClinVar RCV000057419
- ClinVar RCV000491585
- Pathogenic
- Cardiovascular phenotype; LMNA-related disorder; Charcot-Marie-Tooth disease typ
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 29.50
- ClinVar: Pathogenic (Cardiovascular phenotype; LMNA-related disorder; Charcot-Marie-T)
- EBI: Pathogenic (in CMD1A)
- UniProt: Pathogenic (in CMD1A)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. (PMID 11897440)
- Cited in: Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. (PMID 15219508)