R249Q (p.Arg249Gln) variant of LMNA (Prelamin-A/C)
R249Q (p.Arg249Gln) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with typ. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
R249Q (p.Arg249Gln) variant details
- p.Arg249Gln
- rs59332535
- ClinGen CA018567
- ClinVar RCV000057453
- ClinVar RCV000201012
- Pathogenic/Likely pathogenic
- Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with typ
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- ESM-1b 1.00
- AlphaMissense 0.90
- ClinVar: Pathogenic/Likely pathogenic (Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dy)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Structural context available
- Cited in: Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. (PMID 10739764)
- Cited in: Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the… (PMID 10939567)