H123Q (p.His123Gln) variant of FHL1 (Q13642)
H123Q (p.His123Gln) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of X-linked myopathy with postural muscle atrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
H123Q (p.His123Gln) variant details
- p.His123Gln
- rs267606813
- ClinGen CA414608364
- ClinVar RCV001896151
- UniProt VAR 075354
- Pathogenic
- X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (X-linked myopathy with postural muscle atrophy)
- EBI: Pathogenic (in RBMX1A)
- UniProt: Pathogenic (in RBMX1A)
- Structural context available
- Cited in: Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. (PMID 19181672)
- Cited in: Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. (PMID 18274675)