E2K (p.Glu2Lys) variant of LMNA (Prelamin-A/C)
E2K (p.Glu2Lys) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- rs1558115754
- ClinGen CA16021036
- ClinVar RCV003358470
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- ESM-1b 0.28
- AlphaMissense 0.85
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available