Q13K (p.Gln13Lys) variant of CLCN1 (Chloride channel protein 1)
Q13K (p.Gln13Lys) 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 Inborn genetic diseases; Congenital myotonia, autosomal recessive form; Congenit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q13K (p.Gln13Lys) variant details
- p.Gln13Lys
- rs143025648
- ClinGen CA4536805
- ClinVar RCV000478896
- ClinVar RCV001202209
- Uncertain significance
- Inborn genetic diseases; Congenital myotonia, autosomal recessive form; Congenit
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.15
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases; Congenital myotonia, autosomal recessiv)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00015)
- 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)