R7W (p.Arg7Trp) variant of LMNA (Prelamin-A/C)
R7W (p.Arg7Trp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R7W (p.Arg7Trp) variant details
- p.Arg7Trp
- rs1397676761
- ClinGen CA342805997
- ClinVar RCV002019020
- gnomAD rs1397676761
- Uncertain significance
- Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.50
- ESM-1b 1.00
- AlphaMissense 0.76
- CADD 28.60
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)