E38D (p.Glu38Asp) variant of CLCN1 (Chloride channel protein 1)
E38D (p.Glu38Asp) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E38D (p.Glu38Asp) variant details
- p.Glu38Asp
- gnomAD rs1347626545
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.26
- CADD 23.40
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available