R55W (p.Arg55Trp) variant of GRN (Progranulin)
R55W (p.Arg55Trp) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R55W (p.Arg55Trp) variant details
- p.Arg55Trp
- rs1555610922
- UniProt VAR 064626
- Ensembl rs1555610922
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.38
- CADD 19.00
- Population evidence available
- Structural context available
- Cited in: A thorough assessment of benign genetic variability in GRN and MAPT. (PMID 20020531)