N456D (p.Asn456Asp) variant of LMNA (Prelamin-A/C)
N456D (p.Asn456Asp) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth disease type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
N456D (p.Asn456Asp) variant details
- p.Asn456Asp
- rs267607599
- ClinGen CA017074
- ClinVar RCV000057277
- ClinVar RCV000465598
- Pathogenic
- Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease type 2; not provided)
- 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)