R45H (p.Arg45His) variant of CLCNKB (Chloride channel protein ClC-Kb)
R45H (p.Arg45His) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R45H (p.Arg45His) variant details
- p.Arg45His
- rs551946850
- ClinGen CA623192
- ClinVar RCV002606063
- 1000Genomes rs551946850
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.33
- CADD 18.00
- PolyPhen-2 0.06
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available