Q8E (p.Gln8Glu) variant of CLCN1 (Chloride channel protein 1)
Q8E (p.Gln8Glu) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Q8E (p.Gln8Glu) variant details
- p.Gln8Glu
- gnomAD 7-143316234-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.19
- CADD 1.37
- PolyPhen-2 0.00
- SIFT 0.88
- Population evidence available
- Structural context available
- Literature evidence available