D22G (p.Asp22Gly) variant of GRN (Progranulin)
D22G (p.Asp22Gly) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
D22G (p.Asp22Gly) variant details
- p.Asp22Gly
- TOPMed rs1300536059
- gnomAD rs1300536059
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.59
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available