R44H (p.Arg44His) variant of FHL1 (Q13642)
R44H (p.Arg44His) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; X-linked myopathy with postural muscle. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R44H (p.Arg44His) variant details
- p.Arg44His
- rs11557264
- ClinGen CA336093951
- ClinVar RCV000615985
- ClinVar RCV001237713
- Conflicting interpretations
- Cardiovascular phenotype; not specified; X-linked myopathy with postural muscle
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- AlphaMissense 0.71
- MetaLR 0.73
- MetaSVM 0.56
- PolyPhen-2 0.99
- SIFT 0.10
- EVE 0.46
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; X-linked myopathy with)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.439
- 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)