R453P (p.Arg453Pro) variant of LMNA (Prelamin-A/C)
R453P (p.Arg453Pro) 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 Charcot-Marie-Tooth disease type 2; Emery-Dreifuss muscular dystrophy 2, autosom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
R453P (p.Arg453Pro) variant details
- p.Arg453Pro
- rs267607598
- ClinGen CA017039
- ClinVar RCV000057274
- ClinVar RCV002513737
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease type 2; Emery-Dreifuss muscular dystrophy 2, autosom
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- ESM-1b 1.00
- AlphaMissense 0.20
- MetaLR 0.92
- MetaSVM 1.00
- PolyPhen-2 0.98
- SIFT 0.20
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease type 2; Emery-Dreifuss muscular dyst)
- EBI: Pathogenic (in MDCL)
- UniProt: Pathogenic (in MDCL)
- Structural context available
- Cited in: De novo LMNA mutations cause a new form of congenital muscular dystrophy. (PMID 18551513)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)