F5L (p.Phe5Leu) variant of FHL1 (Q13642)
F5L (p.Phe5Leu) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked myopathy with postural muscle atrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F5L (p.Phe5Leu) variant details
- p.Phe5Leu
- rs2073841797
- ClinGen CA414607357
- ClinVar RCV001324032
- TOPMed rs2073841797
- Uncertain significance
- X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- AlphaMissense 0.97
- MetaLR 0.36
- MetaSVM -0.18
- PolyPhen-2 0.14
- SIFT 0.02
- MutPred 0.65
- ClinVar: Uncertain significance (X-linked myopathy with postural muscle atrophy)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.0559
- 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)