P52P (p.Pro52Pro) variant of CLCN1 (Chloride channel protein 1)
P52P (p.Pro52Pro) in CLCN1 (Chloride channel protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P52P (p.Pro52Pro) variant details
- p.Pro52Pro
- rs886062032
- gnomAD 7-143316368-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 4.46
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available