P20P (p.Pro20Pro) variant of CLCN1 (Chloride channel protein 1)
P20P (p.Pro20Pro) 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.
P20P (p.Pro20Pro) variant details
- p.Pro20Pro
- rs1369497283
- gnomAD 7-143316272-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 10.80
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available