N14H (p.Asn14His) variant of CLCNKB (Chloride channel protein ClC-Kb)
N14H (p.Asn14His) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
N14H (p.Asn14His) variant details
- p.Asn14His
- gnomAD 1-16044532-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.24
- CADD 8.16
- PolyPhen-2 0.23
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available