Y56F (p.Tyr56Phe) variant of FHL1 (Q13642)
Y56F (p.Tyr56Phe) 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 0.71 / 1. The record also includes experimental measurements, published literature, and structural context.
Y56F (p.Tyr56Phe) variant details
- p.Tyr56Phe
- rs758269641
- ClinGen CA414607900
- ClinVar RCV003019357
- Uncertain significance
- X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- AlphaMissense 0.58
- MetaLR 0.75
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.53
- ClinVar: Uncertain significance (X-linked myopathy with postural muscle atrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.326
- 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)