A57P (p.Ala57Pro) variant of LMNA (Prelamin-A/C)
A57P (p.Ala57Pro) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
A57P (p.Ala57Pro) variant details
- p.Ala57Pro
- rs28928903
- ClinGen CA017669
- ClinVar RCV000015600
- ClinVar RCV000057349
- Pathogenic
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic (Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome)
- EBI: Pathogenic (in CMDHH)
- UniProt: Pathogenic (in CMDHH)
- Structural context available
- Cited in: Genetic variation in LMNA modulates plasma leptin and indices of obesity in aboriginal Canadians. (PMID 11015599)
- Cited in: LMNA mutations in atypical Werner's syndrome. (PMID 12927431)