F4S (p.Phe4Ser) variant of CLCNKB (Chloride channel protein ClC-Kb)
F4S (p.Phe4Ser) 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.
F4S (p.Phe4Ser) variant details
- p.Phe4Ser
- TOPMed rs1208815673
- gnomAD rs1208815673
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.18
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available