N14D (p.Asn14Asp) variant of CLCNKB (Chloride channel protein ClC-Kb)
N14D (p.Asn14Asp) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
N14D (p.Asn14Asp) variant details
- p.Asn14Asp
- gnomAD rs1167698353
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.17
- CADD 5.53
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available