C42R (p.Cys42Arg) variant of GRN (Progranulin)
C42R (p.Cys42Arg) 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 and structural context.
C42R (p.Cys42Arg) variant details
- p.Cys42Arg
- gnomAD rs1160868911
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.82
- AlphaMissense 0.70
- MetaLR 0.49
- MetaSVM 0.02
- CADD 28.20
- PolyPhen-2 1.00
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available