W38R (p.Trp38Arg) variant of CLCNKB (Chloride channel protein ClC-Kb)
W38R (p.Trp38Arg) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
W38R (p.Trp38Arg) variant details
- p.Trp38Arg
- rs375301415
- ClinGen CA623184
- cosmic curated COSV65162
- ClinVar RCV002135342
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.37
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available