K4R (p.Lys4Arg) variant of FHL1 (Q13642)
K4R (p.Lys4Arg) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; X-linked scapuloperoneal muscular dystrophy; Myopathy, reducing bo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K4R (p.Lys4Arg) variant details
- p.Lys4Arg
- rs1230410861
- ClinGen CA414607346
- ClinVar RCV000823871
- ClinVar RCV002501146
- Uncertain significance
- not provided; X-linked scapuloperoneal muscular dystrophy; Myopathy, reducing bo
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- AlphaMissense 0.08
- MetaLR 0.05
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.61
- MutPred 0.42
- ClinVar: Uncertain significance (not provided; X-linked scapuloperoneal muscular dystrophy; Myopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.165
- 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)