R62G (p.Arg62Gly) variant of LMNA (Prelamin-A/C)
R62G (p.Arg62Gly) 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; Familial partial lipodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R62G (p.Arg62Gly) variant details
- p.Arg62Gly
- rs56793579
- ClinGen CA017741
- ClinVar RCV000057365
- ClinVar RCV000503031
- Pathogenic
- Charcot-Marie-Tooth disease type 2; not provided; Familial partial lipodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- ESM-1b 1.00
- AlphaMissense 0.94
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease type 2; not provided; Familial parti)
- EBI: Pathogenic (in FPLD2)
- UniProt: Pathogenic (in FPLD2)
- Structural context available
- Cited in: Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains… (PMID 12015247)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)