R317Q (p.Arg317Gln) variant of CLCN1 (Chloride channel protein 1)
R317Q (p.Arg317Gln) 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 Muscle spasm; EMG: neuropathic changes; Migraine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R317Q (p.Arg317Gln) variant details
- p.Arg317Gln
- rs80356702
- ClinGen CA258024
- ClinVar RCV000019094
- ClinVar RCV000019095
- Pathogenic/Likely pathogenic
- Muscle spasm; EMG: neuropathic changes; Migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.90
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Muscle spasm; EMG: neuropathic changes; Migraine)
- EBI: Pathogenic (in MCAD)
- UniProt: Pathogenic (in MCAD)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized… (PMID 10737121)
- Cited in: Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. (PMID 8533761)