K78N (p.Lys78Asn) variant of LMNA (Prelamin-A/C)
K78N (p.Lys78Asn) 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 Arrhythmogenic right ventricular dysplasia 9. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
K78N (p.Lys78Asn) variant details
- p.Lys78Asn
- rs727505038
- ClinGen CA017788
- ClinVar RCV000156465
- ClinVar RCV003581579
- Likely pathogenic
- Arrhythmogenic right ventricular dysplasia 9
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Arrhythmogenic right ventricular dysplasia 9)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)