L59R (p.Leu59Arg) variant of LMNA (Prelamin-A/C)
L59R (p.Leu59Arg) 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.
L59R (p.Leu59Arg) variant details
- p.Leu59Arg
- rs58922911
- ClinGen CA017717
- ClinVar RCV000015627
- ClinVar RCV000057357
- Pathogenic
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic (Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome)
- EBI: Pathogenic (in CMDHH)
- UniProt: Pathogenic (in CMDHH)
- Structural context available
- Cited in: Collagen expression in fibroblasts with a novel LMNA mutation. (PMID 17150192)
- Cited in: Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. (PMID 19283854)