G40G (p.Gly40Gly) variant of CLCN1 (Chloride channel protein 1)
G40G (p.Gly40Gly) in CLCN1 (Chloride channel protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G40G (p.Gly40Gly) variant details
- p.Gly40Gly
- rs200344297
- gnomAD 7-143316332-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 7.89
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available
- Literature evidence available