R44C (p.Arg44Cys) variant of FHL1 (Q13642)
R44C (p.Arg44Cys) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype; X-linked myopathy with postural muscle a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R44C (p.Arg44Cys) variant details
- p.Arg44Cys
- rs1385440296
- ClinGen CA414607808
- cosmic curated COSV61781
- ClinVar RCV002385406
- Uncertain significance
- not provided; Cardiovascular phenotype; X-linked myopathy with postural muscle a
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- AlphaMissense 0.35
- MetaLR 0.78
- MetaSVM 0.70
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.38
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; X-linked myopathy with p)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)