E291K (p.Glu291Lys) variant of LMNA (Prelamin-A/C)
E291K (p.Glu291Lys) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Dilated cardiomyopathy 1A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
E291K (p.Glu291Lys) variant details
- p.Glu291Lys
- rs794728594
- ClinGen CA018791
- ClinVar RCV000182365
- ClinVar RCV004786501
- Conflicting interpretations
- Dilated cardiomyopathy 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.91
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease type 2; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: LMNA-Related Dilated Cardiomyopathy. (PMID 20301717)