P44S (p.Pro44Ser) variant of GRN (Progranulin)
P44S (p.Pro44Ser) in GRN (Progranulin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P44S (p.Pro44Ser) variant details
- p.Pro44Ser
- gnomAD 17-44349292-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.2
- CADD 16.80
- Population evidence available
- Structural context available
- Literature evidence available