V15M (p.Val15Met) variant of GRN (Progranulin)
V15M (p.Val15Met) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
V15M (p.Val15Met) variant details
- p.Val15Met
- gnomAD 17-44349207-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.34
- CADD 25.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available