Q19K (p.Gln19Lys) variant of CLCNKB (Chloride channel protein ClC-Kb)
Q19K (p.Gln19Lys) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Q19K (p.Gln19Lys) variant details
- p.Gln19Lys
- TOPMed rs1355997573
- gnomAD rs1355997573
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.23
- CADD 7.74
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available