N56K (p.Asn56Lys) variant of LMNA (Prelamin-A/C)
N56K (p.Asn56Lys) 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 Familial partial lipodystrophy, Dunnigan type; Emery-Dreifuss muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
N56K (p.Asn56Lys) variant details
- p.Asn56Lys
- rs2102817952
- ClinGen CA342808067
- ClinVar RCV001829276
- Ensembl rs2102817952
- Likely pathogenic
- Familial partial lipodystrophy, Dunnigan type; Emery-Dreifuss muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 21.00
- PolyPhen-2 0.66
- SIFT 0.16
- ClinVar: Likely pathogenic (Familial partial lipodystrophy, Dunnigan type; Emery-Dreifuss mu)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: LMNA-Related Dilated Cardiomyopathy. (PMID 20301717)