T17I (p.Thr17Ile) variant of CLCNKB (Chloride channel protein ClC-Kb)
T17I (p.Thr17Ile) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T17I (p.Thr17Ile) variant details
- p.Thr17Ile
- gnomAD 1-16044542-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.15
- CADD 16.40
- PolyPhen-2 0.05
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available