Q21R (p.Gln21Arg) variant of FHL1 (Q13642)
Q21R (p.Gln21Arg) 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 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q21R (p.Gln21Arg) variant details
- p.Gln21Arg
- rs1187549360
- ClinGen CA414607587
- ClinVar RCV001220807
- ClinVar RCV003145411
- Uncertain significance
- not provided; X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- AlphaMissense 0.30
- MetaLR 0.45
- MetaSVM -0.71
- PolyPhen-2 0.01
- SIFT 0.49
- MutPred 0.39
- 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 -0.302
- 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)