H123L (p.His123Leu) variant of FHL1 (Q13642)
H123L (p.His123Leu) 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, early-onset, severe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
H123L (p.His123Leu) variant details
- p.His123Leu
- rs267606812
- ClinGen CA121568
- ClinVar RCV000012317
- UniProt VAR 075353
- Pathogenic
- Myopathy, reducing body, X-linked, early-onset, severe
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Myopathy, reducing body, X-linked, early-onset, severe)
- 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)