G6E (p.Gly6Glu) variant of CLCNKB (Chloride channel protein ClC-Kb)
G6E (p.Gly6Glu) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G6E (p.Gly6Glu) variant details
- p.Gly6Glu
- ExAC rs747945822
- gnomAD rs747945822
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.51
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available