G34S (p.Gly34Ser) variant of CLCNKB (Chloride channel protein ClC-Kb)
G34S (p.Gly34Ser) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G34S (p.Gly34Ser) variant details
- p.Gly34Ser
- gnomAD 1-16044592-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.31
- CADD 32.00
- PolyPhen-2 0.42
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available