C30C (p.Cys30Cys) variant of CLCN1 (Chloride channel protein 1)
C30C (p.Cys30Cys) in CLCN1 (Chloride channel protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
C30C (p.Cys30Cys) variant details
- p.Cys30Cys
- gnomAD 7-143316302-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 7.83
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available