C41R (p.Cys41Arg) variant of GRN (Progranulin)
C41R (p.Cys41Arg) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
C41R (p.Cys41Arg) variant details
- p.Cys41Arg
- gnomAD 17-44349285-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.75
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available