N39D (p.Asn39Asp) variant of LMNA (Prelamin-A/C)
N39D (p.Asn39Asp) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital muscular dystrophy due to LMNA mutation; Charcot-Marie-Tooth disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
N39D (p.Asn39Asp) variant details
- p.Asn39Asp
- rs267607627
- ClinGen CA342807663
- ClinVar RCV002664185
- ClinVar RCV005254717
- Likely pathogenic
- Congenital muscular dystrophy due to LMNA mutation; Charcot-Marie-Tooth disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital muscular dystrophy due to LMNA mutation; Charcot-Mari)
- EBI: Likely pathogenic (in MDCL and EDMD2)
- UniProt: Likely pathogenic (in MDCL and EDMD2)
- Population evidence available
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)