N14T (p.Asn14Thr) variant of CLCNKB (Chloride channel protein ClC-Kb)
N14T (p.Asn14Thr) in CLCNKB (Chloride channel protein ClC-Kb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
N14T (p.Asn14Thr) variant details
- p.Asn14Thr
- rs1260198649
- gnomAD 1-16044527-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.342
- CADD 0.12
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available