E291V (p.Glu291Val) variant of LMNA (Prelamin-A/C)
E291V (p.Glu291Val) 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 Dilated cardiomyopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
E291V (p.Glu291Val) variant details
- p.Glu291Val
- rs2527980043
- ClinGen CA342817697
- ClinVar RCV003228574
- Likely pathogenic
- Dilated cardiomyopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.985
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Likely pathogenic (Dilated cardiomyopathy 1A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: LMNA-Related Dilated Cardiomyopathy. (PMID 20301717)