C26F (p.Cys26Phe) variant of GRN (Progranulin)
C26F (p.Cys26Phe) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
C26F (p.Cys26Phe) variant details
- p.Cys26Phe
- cosmic curated COSV50007
- ExAC rs780086363
- TOPMed rs780086363
- gnomAD rs780086363
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.72
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available