G23S (p.Gly23Ser) variant of GRN (Progranulin)
G23S (p.Gly23Ser) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G23S (p.Gly23Ser) variant details
- p.Gly23Ser
- gnomAD 17-44349231-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.63
- CADD 26.50
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available