C153R (p.Cys153Arg) variant of FHL1 (Q13642)
C153R (p.Cys153Arg) 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 0.90 / 1. The record also includes published literature and structural context.
C153R (p.Cys153Arg) variant details
- p.Cys153Arg
- rs122458144
- ClinGen CA121548
- ClinVar RCV000012308
- ClinVar RCV001813974
- Pathogenic/Likely pathogenic
- X-linked myopathy with postural muscle atrophy; Myopathy, reducing body, X-linke
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic/Likely pathogenic (X-linked myopathy with postural muscle atrophy; Myopathy, reduci)
- EBI: Pathogenic (in RBMX1B)
- UniProt: Pathogenic (in RBMX1B)
- 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)