R45S (p.Arg45Ser) variant of CLCN1 (Chloride channel protein 1)
R45S (p.Arg45Ser) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R45S (p.Arg45Ser) variant details
- p.Arg45Ser
- TOPMed rs1802291784
- gnomAD rs1802291784
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.55
- CADD 22.30
- PolyPhen-2 0.13
- SIFT 0.05
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available