W7S (p.Trp7Ser) variant of GRN (Progranulin)
W7S (p.Trp7Ser) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
W7S (p.Trp7Ser) variant details
- p.Trp7Ser
- gnomAD 17-44349184-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.66
- CADD 25.30
- PolyPhen-2 0.78
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available