C30Y (p.Cys30Tyr) variant of GRN (Progranulin)
C30Y (p.Cys30Tyr) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
C30Y (p.Cys30Tyr) variant details
- p.Cys30Tyr
- gnomAD 17-44349253-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.61
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available