W122C (p.Trp122Cys) variant of FHL1 (Q13642)
W122C (p.Trp122Cys) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; X-linked myopathy with postural muscle atrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
W122C (p.Trp122Cys) variant details
- p.Trp122Cys
- rs1556639109
- ClinGen CA414608358
- ClinVar RCV000592313
- ClinVar RCV001247631
- Conflicting interpretations
- not provided; X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Conflicting classifications of pathogenicity (not provided; X-linked myopathy with postural muscle atrophy)
- EBI: Pathogenic (in SPM)
- UniProt: Pathogenic (in SPM)
- Structural context available
- Cited in: Emery-Dreifuss Muscular Dystrophy. (PMID 20301609)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)