D47D (p.Asp47Asp) variant of GRN (Progranulin)
D47D (p.Asp47Asp) in GRN (Progranulin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
D47D (p.Asp47Asp) variant details
- p.Asp47Asp
- rs1162722716
- gnomAD 17-44349428-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.293
- CADD 10.80
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available