S143P (p.Ser143Pro) variant of LMNA (Prelamin-A/C)
S143P (p.Ser143Pro) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Charcot-Marie-Tooth disease type 2; not provided; Dilated cardiomyopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
S143P (p.Ser143Pro) variant details
- p.Ser143Pro
- rs61661343
- ClinGen CA018081
- ClinVar RCV000057404
- ClinVar RCV001258042
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease type 2; not provided; Dilated cardiomyopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease type 2; not provided; Dilated cardio)
- EBI: Pathogenic (in CMD1A)
- UniProt: Pathogenic (in CMD1A)
- Structural context available
- Cited in: A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy. (PMID 15140538)
- Cited in: Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system… (PMID 10580070)