C20G (p.Cys20Gly) variant of GRN (Progranulin)
C20G (p.Cys20Gly) in GRN (Progranulin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
C20G (p.Cys20Gly) variant details
- p.Cys20Gly
- 1000Genomes rs542613543
- ExAC rs542613543
- TOPMed rs542613543
- gnomAD rs542613543
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.79
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available