R9H (p.Arg9His) variant of CLCN1 (Chloride channel protein 1)
R9H (p.Arg9His) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Congenital myotonia, autosomal recessive form; Congenital myotonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R9H (p.Arg9His) variant details
- p.Arg9His
- rs115379077
- ClinGen CA4536803
- ClinVar RCV000266244
- ClinVar RCV000429129
- Benign/Likely benign
- not provided; Congenital myotonia, autosomal recessive form; Congenital myotonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.13
- CADD 0.11
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Benign/Likely benign (not provided; Congenital myotonia, autosomal recessive form; Con)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.1)
- Structural context available
- Cited in: Myotonia Congenita. (PMID 20301529)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)