C30L (p.Cys30Leu) variant of GRN (Progranulin)
C30L (p.Cys30Leu) in GRN (Progranulin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
C30L (p.Cys30Leu) variant details
- p.Cys30Leu
- rs794729672
- gnomAD 17-44349249-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 27.10
- Population evidence available
- Structural context available
- Literature evidence available