R28W (p.Arg28Trp) variant of LMNA (Prelamin-A/C)
R28W (p.Arg28Trp) 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 Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R28W (p.Arg28Trp) variant details
- p.Arg28Trp
- rs59914820
- ClinGen CA018743
- ClinVar RCV000057473
- ClinVar RCV000653924
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2)
- EBI: Pathogenic (in FPLD2)
- UniProt: Pathogenic (in FPLD2)
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains… (PMID 12015247)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)