C209R (p.Cys209Arg) variant of FHL1 (Q13642)
C209R (p.Cys209Arg) 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 0.96 / 1. The record also includes published literature and structural context.
C209R (p.Cys209Arg) variant details
- p.Cys209Arg
- rs122459149
- ClinGen CA121565
- ClinVar RCV000012313
- ClinVar RCV003511982
- Pathogenic
- X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (X-linked myopathy with postural muscle atrophy)
- EBI: Pathogenic (in EDMD6)
- UniProt: Pathogenic (in EDMD6)
- Structural context available
- Cited in: Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. (PMID 19716112)
- Cited in: Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation. (PMID 20186852)