N14Y (p.Asn14Tyr) variant of CLCNKB (Chloride channel protein ClC-Kb)
N14Y (p.Asn14Tyr) in CLCNKB (Chloride channel protein ClC-Kb) is a missense 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.
N14Y (p.Asn14Tyr) variant details
- p.Asn14Tyr
- gnomAD 1-16044532-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.33
- CADD 15.30
- PolyPhen-2 0.23
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available