N14K (p.Asn14Lys) variant of CLCNKB (Chloride channel protein ClC-Kb)
N14K (p.Asn14Lys) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
N14K (p.Asn14Lys) variant details
- p.Asn14Lys
- gnomAD rs1417735592
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.15
- CADD 2.19
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available