R62C (p.Arg62Cys) variant of LMNA (Prelamin-A/C)
R62C (p.Arg62Cys) 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 Charcot-Marie-Tooth disease type 2; Dilated cardiomyopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R62C (p.Arg62Cys) variant details
- p.Arg62Cys
- rs56793579
- ClinGen CA500017
- ClinVar RCV000691484
- ClinVar RCV005870798
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease type 2; Dilated cardiomyopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.86
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease type 2; Dilated cardiomyopathy 1A)
- EBI: Pathogenic (in FPLD2)
- UniProt: Pathogenic (in FPLD2)
- Population evidence available
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)