C44C (p.Cys44Cys) variant of PDE6B (P35913)
C44C (p.Cys44Cys) in PDE6B (P35913) 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.
C44C (p.Cys44Cys) variant details
- p.Cys44Cys
- rs199974771
- gnomAD 4-625758-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0868
- CADD 0.87
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available