N14S (p.Asn14Ser) variant of CLCNKB (Chloride channel protein ClC-Kb)
N14S (p.Asn14Ser) in CLCNKB (Chloride channel protein ClC-Kb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
N14S (p.Asn14Ser) variant details
- p.Asn14Ser
- gnomAD 1-16044532-AACCCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available