F307S (p.Phe307Ser) variant of CLCN1 (Chloride channel protein 1)
F307S (p.Phe307Ser) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Congenital myotonia, autosomal dominant form; Congenital myotonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
F307S (p.Phe307Ser) variant details
- p.Phe307Ser
- rs80356701
- ClinGen CA341557
- ClinVar RCV000020118
- ClinVar RCV000477848
- Pathogenic/Likely pathogenic
- not provided; Congenital myotonia, autosomal dominant form; Congenital myotonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Congenital myotonia, autosomal dominant form; Cong)
- EBI: Pathogenic (in MCAD)
- UniProt: Pathogenic (in MCAD)
- Most common in the REMAINING population (allele frequency 0.0003)
- Structural context available
- Cited in: Decrement of compound muscle action potential is related to mutation type in myotonia congenita. (PMID 12661046)
- Cited in: ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage… (PMID 9736777)