E28Q (p.Glu28Gln) variant of CLCN1 (Chloride channel protein 1)
E28Q (p.Glu28Gln) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- gnomAD 7-143316294-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.40
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available