L34V (p.Leu34Val) variant of TBK1 (Q9UHD2)
L34V (p.Leu34Val) in TBK1 (Q9UHD2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of TBK1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L34V (p.Leu34Val) variant details
- p.Leu34Val
- rs1298720550
- TOPMed rs1298720550
- gnomAD rs1298720550
- Uncertain significance
- TBK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.27
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.10
- ClinVar: Uncertain significance (TBK1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available