D22Y (p.Asp22Tyr) variant of GRN (Progranulin)
D22Y (p.Asp22Tyr) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
D22Y (p.Asp22Tyr) variant details
- p.Asp22Tyr
- gnomAD 17-44349228-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.56
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available