T17N (p.Thr17Asn) variant of CLCNKB (Chloride channel protein ClC-Kb)
T17N (p.Thr17Asn) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T17N (p.Thr17Asn) variant details
- p.Thr17Asn
- gnomAD rs866959922
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.12
- CADD 11.30
- PolyPhen-2 0.10
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available