P34R (p.Pro34Arg) variant of GRN (Progranulin)
P34R (p.Pro34Arg) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P34R (p.Pro34Arg) variant details
- p.Pro34Arg
- gnomAD 17-44349265-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.28
- CADD 16.60
- PolyPhen-2 0.41
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available