V8E (p.Val8Glu) variant of GRN (Progranulin)
V8E (p.Val8Glu) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
V8E (p.Val8Glu) variant details
- p.Val8Glu
- gnomAD 17-44349187-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.51
- CADD 23.10
- PolyPhen-2 0.27
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available