F27L (p.Phe27Leu) variant of CLCN1 (Chloride channel protein 1)
F27L (p.Phe27Leu) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
F27L (p.Phe27Leu) variant details
- p.Phe27Leu
- rs2487015521
- ClinGen CA369676916
- ClinVar RCV003025867
- Uncertain significance
- Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.41
- CADD 23.90
- PolyPhen-2 0.52
- SIFT 0.01
- ClinVar: Uncertain significance (Congenital myotonia, autosomal recessive form; Congenital myoton)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Myotonia Congenita. (PMID 20301529)