D49L (p.Asp49Leu) variant of CLCNKB (Chloride channel protein ClC-Kb)
D49L (p.Asp49Leu) in CLCNKB (Chloride channel protein ClC-Kb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
D49L (p.Asp49Leu) variant details
- p.Asp49Leu
- gnomAD 1-16045601-GGA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.466
- CADD 31.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available