D49N (p.Asp49Asn) variant of CLCNKB (Chloride channel protein ClC-Kb)
D49N (p.Asp49Asn) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
D49N (p.Asp49Asn) variant details
- p.Asp49Asn
- gnomAD 1-16045602-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.81
- CADD 28.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available