R43C (p.Arg43Cys) variant of GRN (Progranulin)
R43C (p.Arg43Cys) in GRN (Progranulin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R43C (p.Arg43Cys) variant details
- p.Arg43Cys
- NCI-TCGA Cosmic COSV5000
- cosmic curated COSV50007
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.13
- CADD 21.00
- PolyPhen-2 0.16
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available