H7Y (p.His7Tyr) variant of TBK1 (Q9UHD2)
H7Y (p.His7Tyr) in TBK1 (Q9UHD2) 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 0.33 / 1. The record also includes population frequency data and structural context.
H7Y (p.His7Tyr) variant details
- p.His7Tyr
- NCI-TCGA Cosmic COSV5915
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.06
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available