T315S (p.Thr315Ser) variant of FHL1 (Q13642)
T315S (p.Thr315Ser) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of X-linked myopathy with postural muscle atrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
T315S (p.Thr315Ser) variant details
- p.Thr315Ser
- rs755385158
- ClinGen CA414609732
- ClinVar RCV003624785
- Pathogenic
- X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- AlphaMissense 0.17
- MetaLR 0.35
- MetaSVM -0.14
- PolyPhen-2 0.10
- SIFT 0.00
- MutPred 0.25
- ClinVar: Pathogenic (X-linked myopathy with postural muscle atrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)