p.Ser40delinsArgCys variant of GRN (Progranulin)
p.Ser40delinsArgCys in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser40delinsArgCys variant details
- rs1478146759
- gnomAD 17-44349282-A-AGA
- Protein Altering
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available