Q7Q (p.Gln7Gln) variant of CLCN1 (Chloride channel protein 1)
Q7Q (p.Gln7Gln) in CLCN1 (Chloride channel protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q7Q (p.Gln7Gln) variant details
- p.Gln7Gln
- gnomAD 7-143316233-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 2.91
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available