Y33Y (p.Tyr33Tyr) variant of CLCN1 (Chloride channel protein 1)
Y33Y (p.Tyr33Tyr) in CLCN1 (Chloride channel protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
Y33Y (p.Tyr33Tyr) variant details
- p.Tyr33Tyr
- rs138922145
- gnomAD 7-143316311-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0872
- CADD 0.93
- Most common in the South Asian population (allele frequency 0.00024)
- Structural context available
- Literature evidence available