K30R (p.Lys30Arg) variant of FHL1 (Q13642)
K30R (p.Lys30Arg) 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 myopathy with postural muscle atrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K30R (p.Lys30Arg) variant details
- p.Lys30Arg
- rs1226091388
- ClinGen CA414607707
- ClinVar RCV001069701
- ClinVar RCV004768852
- Uncertain significance
- not provided; X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- AlphaMissense 0.08
- MetaLR 0.41
- MetaSVM -0.55
- PolyPhen-2 0.00
- SIFT 0.29
- MutPred 0.44
- ClinVar: Uncertain significance (not provided; X-linked myopathy with postural muscle atrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.0307
- 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)