D33G (p.Asp33Gly) variant of GRN (Progranulin)
D33G (p.Asp33Gly) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
D33G (p.Asp33Gly) variant details
- p.Asp33Gly
- gnomAD 17-44349262-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.15
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available