C31L (p.Cys31Leu) variant of GRN (Progranulin)
C31L (p.Cys31Leu) in GRN (Progranulin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
C31L (p.Cys31Leu) variant details
- p.Cys31Leu
- rs63751057
- gnomAD 17-44349248-G-GGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.337
- CADD 26.60
- Population evidence available
- Structural context available
- Literature evidence available