R43L (p.Arg43Leu) variant of GRN (Progranulin)
R43L (p.Arg43Leu) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R43L (p.Arg43Leu) variant details
- p.Arg43Leu
- gnomAD 17-44349292-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.15
- CADD 7.33
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available