Y39C (p.Tyr39Cys) variant of GRN (Progranulin)
Y39C (p.Tyr39Cys) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Y39C (p.Tyr39Cys) variant details
- p.Tyr39Cys
- gnomAD 17-44349280-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.67
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available