S18I (p.Ser18Ile) variant of CLCN1 (Chloride channel protein 1)
S18I (p.Ser18Ile) 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 not specified; Inborn genetic diseases; Congenital myotonia, autosomal recessive. 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.
S18I (p.Ser18Ile) variant details
- p.Ser18Ile
- rs774525961
- ClinGen CA4536807
- ClinVar RCV003052596
- ClinVar RCV003358064
- Uncertain significance
- not specified; Inborn genetic diseases; Congenital myotonia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.43
- CADD 22.50
- PolyPhen-2 0.12
- SIFT 0.02
- ClinVar: Uncertain significance (not specified; Inborn genetic diseases; Congenital myotonia, aut)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- 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)