V28C (p.Val28Cys) variant of GRN (Progranulin)
V28C (p.Val28Cys) in GRN (Progranulin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V28C (p.Val28Cys) variant details
- p.Val28Cys
- rs1392550887
- gnomAD 17-44349241-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 25.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available