G48S (p.Gly48Ser) variant of FHL1 (Q13642)
G48S (p.Gly48Ser) 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; not provided; X-linked myopathy with postural muscle a. 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.
G48S (p.Gly48Ser) variant details
- p.Gly48Ser
- rs1467233713
- ClinGen CA414607830
- NCI-TCGA Cosmic COSV6178
- Uncertain significance
- Cardiovascular phenotype; not provided; X-linked myopathy with postural muscle a
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- AlphaMissense 0.14
- MetaLR 0.46
- MetaSVM -0.39
- PolyPhen-2 0.84
- SIFT 0.21
- EVE 0.18
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; X-linked myopathy with p)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.501
- 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)