C20C (p.Cys20Cys) variant of GRN (Progranulin)
C20C (p.Cys20Cys) in GRN (Progranulin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
C20C (p.Cys20Cys) variant details
- p.Cys20Cys
- gnomAD 17-44349224-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.293
- CADD 7.94
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available