V5M (p.Val5Met) variant of GRN (Progranulin)
V5M (p.Val5Met) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V5M (p.Val5Met) variant details
- p.Val5Met
- Ensembl rs1555610859
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.23
- CADD 23.50
- PolyPhen-2 0.18
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available