N39S (p.Asn39Ser) variant of LMNA (Prelamin-A/C)
N39S (p.Asn39Ser) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of LMNA-related disorder; Charcot-Marie-Tooth disease type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
N39S (p.Asn39Ser) variant details
- p.Asn39Ser
- rs57983345
- ClinGen CA016815
- ClinVar RCV000057252
- ClinVar RCV000557302
- Pathogenic
- LMNA-related disorder; Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (LMNA-related disorder; Charcot-Marie-Tooth disease type 2; not p)
- EBI: Pathogenic (in MDCL and EDMD2)
- UniProt: Pathogenic (in MDCL and EDMD2)
- Population evidence available
- Structural context available
- Cited in: De novo LMNA mutations cause a new form of congenital muscular dystrophy. (PMID 18551513)
- Cited in: Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA… (PMID 20848652)