K34E (p.Lys34Glu) variant of FHL1 (Q13642)
K34E (p.Lys34Glu) 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 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K34E (p.Lys34Glu) variant details
- p.Lys34Glu
- rs754421860
- ClinGen CA414607736
- ClinVar RCV000788887
- ClinVar RCV002535794
- Uncertain significance
- Cardiovascular phenotype; X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- AlphaMissense 0.71
- MetaLR 0.74
- MetaSVM 0.55
- PolyPhen-2 0.99
- SIFT 0.08
- EVE 0.34
- 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 -1.16
- 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)