R455C (p.Arg455Cys) variant of LMNA (Prelamin-A/C)
R455C (p.Arg455Cys) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease type 2; Dilated cardiomyopathy 1A; Emery-Dreifuss mu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R455C (p.Arg455Cys) variant details
- p.Arg455Cys
- rs397517892
- ClinGen CA017058
- ClinVar RCV000041316
- ClinVar RCV001052345
- Uncertain significance
- Charcot-Marie-Tooth disease type 2; Dilated cardiomyopathy 1A; Emery-Dreifuss mu
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.80
- ESM-1b 0.00
- AlphaMissense 0.33
- CADD 31.00
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2; Dilated cardiomyopathy 1A; E)
- EBI: Variant of uncertain significance (in MDCL)
- UniProt: Uncertain significance (in MDCL)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)