T64I (p.Thr64Ile) variant of FHL1 (Q13642)
T64I (p.Thr64Ile) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
T64I (p.Thr64Ile) variant details
- p.Thr64Ile
- rs746834335
- ClinGen CA10524969
- ClinVar RCV000705173
- ExAC rs746834335
- Uncertain significance
- X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.08
- MetaLR 0.37
- MetaSVM -0.78
- PolyPhen-2 0.00
- SIFT 0.49
- EVE 0.18
- ClinVar: Uncertain significance (X-linked myopathy with postural muscle atrophy)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- 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)