C42C (p.Cys42Cys) variant of GRN (Progranulin)
C42C (p.Cys42Cys) in GRN (Progranulin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
C42C (p.Cys42Cys) variant details
- p.Cys42Cys
- rs2048349215
- gnomAD 17-44349290-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.211
- CADD 9.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available