R8C (p.Arg8Cys) variant of LMNA (Prelamin-A/C)
R8C (p.Arg8Cys) 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. 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.
R8C (p.Arg8Cys) variant details
- p.Arg8Cys
- rs1649697783
- ClinGen CA342806018
- ClinVar RCV002003671
- Ensembl rs1649697783
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.76
- CADD 31.00
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)