D47V (p.Asp47Val) variant of GRN (Progranulin)
D47V (p.Asp47Val) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D47V (p.Asp47Val) variant details
- p.Asp47Val
- 1000Genomes rs200782457
- ExAC rs200782457
- gnomAD rs200782457
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.33
- CADD 23.00
- PolyPhen-2 0.89
- SIFT 0.10
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available