E111K (p.Glu111Lys) variant of LMNA (Prelamin-A/C)
E111K (p.Glu111Lys) 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 0.96 / 1. The record also includes published literature and structural context.
E111K (p.Glu111Lys) variant details
- p.Glu111Lys
- rs61726475
- ClinGen CA342808843
- ClinVar RCV003314200
- Likely pathogenic
- Hutchinson-Gilford syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- ESM-1b 1.00
- AlphaMissense 0.92
- ClinVar: Likely pathogenic (Hutchinson-Gilford syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hutchinson-Gilford Progeria Syndrome. (PMID 20301300)