D33V (p.Asp33Val) variant of GRN (Progranulin)
D33V (p.Asp33Val) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D33V (p.Asp33Val) variant details
- p.Asp33Val
- gnomAD 17-44349262-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.41
- CADD 22.70
- PolyPhen-2 0.56
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available