K542N (p.Lys542Asn) variant of LMNA (Prelamin-A/C)
K542N (p.Lys542Asn) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mandibuloacral dysplasia with type A lipodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
K542N (p.Lys542Asn) variant details
- p.Lys542Asn
- rs56673169
- ClinGen CA017637
- ClinVar RCV000015603
- ClinVar RCV000057346
- Pathogenic
- Mandibuloacral dysplasia with type A lipodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 0.99
- CADD 24.30
- PolyPhen-2 0.80
- SIFT 0.05
- ClinVar: Pathogenic (Mandibuloacral dysplasia with type A lipodystrophy)
- EBI: Pathogenic (in HGPS)
- UniProt: Pathogenic (in HGPS)
- Population evidence available
- Structural context available
- Cited in: Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome. (PMID 15286156)
- Cited in: Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. (PMID 12714972)