G465D (p.Gly465Asp) variant of LMNA (Prelamin-A/C)
G465D (p.Gly465Asp) 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; Familial partial lipodystrophy, Dunnigan typ. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
G465D (p.Gly465Asp) variant details
- p.Gly465Asp
- rs61282106
- ClinGen CA017164
- ClinVar RCV000015584
- ClinVar RCV000057287
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease type 2; Familial partial lipodystrophy, Dunnigan typ
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.12
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease type 2; Familial partial lipodystrop)
- EBI: Pathogenic (in FPLD2)
- UniProt: Pathogenic (in FPLD2)
- Structural context available
- Cited in: Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent… (PMID 10739751)
- Cited in: Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations. (PMID 23243001)