R453W (p.Arg453Trp) variant of LMNA (Prelamin-A/C)
R453W (p.Arg453Trp) 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; Muscular dystrophy; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R453W (p.Arg453Trp) variant details
- p.Arg453Trp
- rs58932704
- ClinGen CA017033
- ClinVar RCV000015565
- ClinVar RCV000057273
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Muscular dystrophy; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.78
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Muscular dystrophy; Charcot-Marie-Toot)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Population evidence available
- Structural context available
- Cited in: Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. (PMID 10080180)
- Cited in: Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. (PMID 10739764)