R47C (p.Arg47Cys) variant of TBK1 (Q9UHD2)
R47C (p.Arg47Cys) in TBK1 (Q9UHD2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in FTDALS4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R47C (p.Arg47Cys) variant details
- p.Arg47Cys
- NCI-TCGA Cosmic COSV5915
- Variant assessed as somatic; moderate impact.
- in FTDALS4
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.35
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact. (in FTDALS4)
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available