C104R (p.Cys104Arg) variant of FHL1 (Q13642)
C104R (p.Cys104Arg) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Myopathy, reducing body, X-linked, childhood-onset. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C104R (p.Cys104Arg) variant details
- p.Cys104Arg
- rs122459147
- ClinGen CA121555
- ClinVar RCV000012311
- UniProt VAR 075352
- Pathogenic
- Myopathy, reducing body, X-linked, childhood-onset
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Myopathy, reducing body, X-linked, childhood-onset)
- EBI: Pathogenic (in RBMX1B)
- UniProt: Pathogenic (in RBMX1B)
- Structural context available
- Cited in: Familial reducing body myopathy. (PMID 16919903)
- Cited in: Novel FHL1 mutations in fatal and benign reducing body myopathy. (PMID 19171836)