D300N (p.Asp300Asn) variant of LMNA (Prelamin-A/C)
D300N (p.Asp300Asn) 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 Dilated cardiomyopathy 1A; Lipodystrophy; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
D300N (p.Asp300Asn) variant details
- p.Asp300Asn
- rs267607591
- ClinGen CA018826
- ClinVar RCV000057481
- ClinVar RCV000146262
- Pathogenic/Likely pathogenic
- Dilated cardiomyopathy 1A; Lipodystrophy; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- ESM-1b 1.00
- AlphaMissense 0.65
- MetaLR 0.68
- MetaSVM 0.44
- PolyPhen-2 0.18
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Dilated cardiomyopathy 1A; Lipodystrophy; Charcot-Marie-Tooth di)
- EBI: Pathogenic (in HGPS)
- UniProt: Pathogenic (in HGPS)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)