S5Y (p.Ser5Tyr) variant of TBK1 (Q9UHD2)
S5Y (p.Ser5Tyr) in TBK1 (Q9UHD2) is a missense change. Clinical records from ClinVar, EBI, 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S5Y (p.Ser5Tyr) variant details
- p.Ser5Tyr
- rs764400429
- ClinGen CA385592787
- ClinVar RCV003388754
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.09
- CADD 24.20
- PolyPhen-2 0.46
- SIFT 0.01
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)