S12A (p.Ser12Ala) variant of TBK1 (Q9UHD2)
S12A (p.Ser12Ala) in TBK1 (Q9UHD2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Frontotemporal dementia and/or amyotrophic lateral sclerosis 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S12A (p.Ser12Ala) variant details
- p.Ser12Ala
- 1000Genomes rs199822589
- ExAC rs199822589
- TOPMed rs199822589
- gnomAD rs199822589
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.15
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.04
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 4)
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available