C30C (p.Cys30Cys) variant of GRN (Progranulin)
C30C (p.Cys30Cys) in GRN (Progranulin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
C30C (p.Cys30Cys) variant details
- p.Cys30Cys
- gnomAD 17-44349254-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 13.00
- Population evidence available
- Structural context available
- Literature evidence available