C150W (p.Cys150Trp) variant of FHL1 (Q13642)
C150W (p.Cys150Trp) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 population frequency data, published literature, and structural context.
C150W (p.Cys150Trp) variant details
- p.Cys150Trp
- rs145445372
- ClinGen CA414608558
- ClinVar RCV001214185
- 1000Genomes rs145445372
- Likely pathogenic
- X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (X-linked myopathy with postural muscle atrophy)
- EBI: Likely pathogenic (in RBMX1A)
- UniProt: Likely pathogenic (in RBMX1A)
- Population evidence available
- 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)