L72P (p.Leu72Pro) variant of FHL1 (Q13642)
L72P (p.Leu72Pro) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked myopathy with postural muscle atrophy. The record also includes published literature and structural context.
L72P (p.Leu72Pro) variant details
- p.Leu72Pro
- rs2521263688
- ClinGen CA414608015
- ClinVar RCV002712117
- Uncertain significance
- X-linked myopathy with postural muscle atrophy
- Missense
- ClinVar: Uncertain significance (X-linked myopathy with postural muscle atrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Emery-Dreifuss Muscular Dystrophy. (PMID 20301609)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)