E28E (p.Glu28Glu) variant of CLCN1 (Chloride channel protein 1)
E28E (p.Glu28Glu) in CLCN1 (Chloride channel protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E28E (p.Glu28Glu) variant details
- p.Glu28Glu
- gnomAD 7-143316296-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 5.83
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available