R19L (p.Arg19Leu) variant of GRN (Progranulin)
R19L (p.Arg19Leu) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R19L (p.Arg19Leu) variant details
- p.Arg19Leu
- gnomAD 17-44349220-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.10
- CADD 9.97
- PolyPhen-2 0.09
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available