p.Gln19 Leu21del variant of CLCNKB (Chloride channel protein ClC-Kb)
p.Gln19 Leu21del in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gln19 Leu21del variant details
- gnomAD 1-16044542-CTCTGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.527
- CADD 16.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available