G24S (p.Gly24Ser) variant of FHL1 (Q13642)
G24S (p.Gly24Ser) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; X-linked myopathy with postural muscle atrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G24S (p.Gly24Ser) variant details
- p.Gly24Ser
- rs772911535
- ClinGen CA10524951
- cosmic curated COSV61781
- ClinVar RCV001373015
- Uncertain significance
- Cardiovascular phenotype; X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- AlphaMissense 0.18
- MetaLR 0.70
- MetaSVM 0.35
- PolyPhen-2 0.95
- SIFT 0.16
- MutPred 0.49
- ClinVar: Uncertain significance (Cardiovascular phenotype; X-linked myopathy with postural muscle)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.436
- 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)