W122S (p.Trp122Ser) variant of FHL1 (Q13642)
W122S (p.Trp122Ser) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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.
W122S (p.Trp122Ser) variant details
- p.Trp122Ser
- rs122458140
- ClinGen CA210529
- ClinVar RCV000012303
- ClinVar RCV001562936
- Pathogenic
- not provided; X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic (not provided; X-linked myopathy with postural muscle atrophy)
- EBI: Pathogenic (in SPM)
- UniProt: Pathogenic (in SPM)
- Structural context available
- Cited in: X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. (PMID 18179901)
- Cited in: Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. (PMID 19181672)