L59W (p.Leu59Trp) variant of TBK1 (Q9UHD2)
L59W (p.Leu59Trp) in TBK1 (Q9UHD2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
L59W (p.Leu59Trp) variant details
- p.Leu59Trp
- gnomAD rs2040532362
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.80
- CADD 27.30
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available