S51F (p.Ser51Phe) variant of FHL1 (Q13642)
S51F (p.Ser51Phe) 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 0.75 / 1. The record also includes experimental measurements, published literature, and structural context.
S51F (p.Ser51Phe) variant details
- p.Ser51Phe
- rs1327221666
- ClinGen CA414607853
- ClinVar RCV001964274
- TOPMed rs1327221666
- Uncertain significance
- X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- AlphaMissense 0.47
- MetaLR 0.83
- MetaSVM 0.85
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.58
- 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 -0.487
- 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)