C42Y (p.Cys42Tyr) variant of GRN (Progranulin)
C42Y (p.Cys42Tyr) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
C42Y (p.Cys42Tyr) variant details
- p.Cys42Tyr
- TOPMed rs1361710653
- gnomAD rs1361710653
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.62
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available