M1K (p.Met1Lys) variant of LMNA (Prelamin-A/C)
M1K (p.Met1Lys) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs2527828780
- ClinGen CA342805828
- ClinVar RCV003217711
- ClinVar RCV004719317
- Pathogenic
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.95
- ESM-1b 1.00
- AlphaMissense 0.89
- ClinVar: Pathogenic (Cardiovascular phenotype; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available