C101F (p.Cys101Phe) variant of FHL1 (Q13642)
C101F (p.Cys101Phe) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of X-linked scapuloperoneal muscular dystrophy; Myopathy, reducing body, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C101F (p.Cys101Phe) variant details
- p.Cys101Phe
- rs2148373642
- ClinVar RCV005410186
- Ensembl rs2148373642
- UniProt VAR 075350
- Likely pathogenic
- X-linked scapuloperoneal muscular dystrophy; Myopathy, reducing body, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (X-linked scapuloperoneal muscular dystrophy; Myopathy, reducing)
- EBI: Likely pathogenic (in RBMX1A)
- UniProt: Likely pathogenic (in RBMX1A)
- Structural context available
- Cited in: Novel FHL1 mutations in fatal and benign reducing body myopathy. (PMID 19171836)
- Cited in: Emery-Dreifuss Muscular Dystrophy. (PMID 20301609)