R43G (p.Arg43Gly) variant of GRN (Progranulin)
R43G (p.Arg43Gly) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R43G (p.Arg43Gly) variant details
- p.Arg43Gly
- gnomAD rs1419686334
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.07
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available