Q43R (p.Gln43Arg) variant of CLCN1 (Chloride channel protein 1)
Q43R (p.Gln43Arg) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Q43R (p.Gln43Arg) variant details
- p.Gln43Arg
- rs868831424
- UniProt VAR 075588
- gnomAD rs868831424
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.48
- CADD 21.10
- PolyPhen-2 0.08
- SIFT 0.12
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in MCAR)
- UniProt: Pathogenic (in MCAR)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal… (PMID 26502825)
- Cited in: The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and… (PMID 10051520)