C26G (p.Cys26Gly) variant of GRN (Progranulin)
C26G (p.Cys26Gly) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
C26G (p.Cys26Gly) variant details
- p.Cys26Gly
- gnomAD 17-44349240-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.69
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available