E262K (p.Glu262Lys) variant of LMNA (Prelamin-A/C)
E262K (p.Glu262Lys) 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 Hutchinson-Gilford syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
E262K (p.Glu262Lys) variant details
- p.Glu262Lys
- rs397517909
- ClinGen CA342817401
- ClinVar RCV002271733
- Ensembl rs397517909
- Likely pathogenic
- Hutchinson-Gilford syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Likely pathogenic (Hutchinson-Gilford syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hutchinson-Gilford Progeria Syndrome. (PMID 20301300)