H29P (p.His29Pro) variant of CLCN1 (Chloride channel protein 1)
H29P (p.His29Pro) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
H29P (p.His29Pro) variant details
- p.His29Pro
- rs146160029
- ClinGen CA4536816
- ClinVar RCV000361953
- ClinVar RCV000442751
- Conflicting interpretations
- not provided; Congenital myotonia, autosomal recessive form; Congenital myotonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.81
- CADD 24.70
- PolyPhen-2 0.50
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; Congenital myotonia, autosomal recessive form; Con)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- 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)