C150Y (p.Cys150Tyr) variant of FHL1 (Q13642)
C150Y (p.Cys150Tyr) 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 0.97 / 1. The record also includes published literature and structural context.
C150Y (p.Cys150Tyr) variant details
- p.Cys150Tyr
- rs122459146
- ClinGen CA121552
- ClinVar RCV000012310
- ClinVar RCV001851803
- Pathogenic
- X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (X-linked myopathy with postural muscle atrophy)
- EBI: Pathogenic (in RBMX1A)
- UniProt: Pathogenic (in RBMX1A)
- Structural context available
- Cited in: Novel FHL1 mutations in fatal and benign reducing body myopathy. (PMID 19171836)
- Cited in: Fatal reducing body myopathy. Ultrastructural and immunohistochemical observations. (PMID 7722535)