C20Y (p.Cys20Tyr) variant of GRN (Progranulin)
C20Y (p.Cys20Tyr) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
C20Y (p.Cys20Tyr) variant details
- p.Cys20Tyr
- ExAC rs757346713
- TOPMed rs757346713
- gnomAD rs757346713
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.78
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available