D13N (p.Asp13Asn) variant of TBK1 (Q9UHD2)
D13N (p.Asp13Asn) 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 0.51 / 1. The record also includes population frequency data and structural context.
D13N (p.Asp13Asn) variant details
- p.Asp13Asn
- NCI-TCGA Cosmic COSV1002
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.29
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available