C132F (p.Cys132Phe) variant of FHL1 (Q13642)
C132F (p.Cys132Phe) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Centronuclear myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C132F (p.Cys132Phe) variant details
- p.Cys132Phe
- rs122458143
- ClinGen CA121546
- ClinVar RCV000012307
- ClinVar RCV004585997
- Pathogenic
- Centronuclear myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (Centronuclear myopathy)
- EBI: Pathogenic (in RBMX1A)
- UniProt: Pathogenic (in RBMX1A)
- Structural context available
- Cited in: Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. (PMID 18274675)
- Cited in: Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. (PMID 19181672)