C150R (p.Cys150Arg) variant of FHL1 (Q13642)
C150R (p.Cys150Arg) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of X-linked myopathy with postural muscle atrophy; Myopathy, reducing body, X-linke. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C150R (p.Cys150Arg) variant details
- p.Cys150Arg
- rs1603271659
- ClinGen CA414608553
- ClinVar RCV000850501
- ClinVar RCV001869289
- Pathogenic/Likely pathogenic
- X-linked myopathy with postural muscle atrophy; Myopathy, reducing body, X-linke
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic/Likely pathogenic (X-linked myopathy with postural muscle atrophy; Myopathy, reduci)
- EBI: Pathogenic (in RBMX1A)
- UniProt: Pathogenic (in RBMX1A)
- 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)