F27F (p.Phe27Phe) variant of CLCN1 (Chloride channel protein 1)
F27F (p.Phe27Phe) in CLCN1 (Chloride channel protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
F27F (p.Phe27Phe) variant details
- p.Phe27Phe
- gnomAD 7-143316293-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.117
- CADD 5.16
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available