C153Y (p.Cys153Tyr) variant of FHL1 (Q13642)
C153Y (p.Cys153Tyr) 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 myopathy with postural muscle atrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
C153Y (p.Cys153Tyr) variant details
- p.Cys153Tyr
- rs122458145
- ClinGen CA121550
- cosmic curated COSV61781
- ClinVar RCV000012309
- Likely pathogenic
- X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (X-linked myopathy with postural muscle atrophy)
- 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)