T77I (p.Thr77Ile) variant of TBK1 (Q9UHD2)
T77I (p.Thr77Ile) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T77I (p.Thr77Ile) variant details
- p.Thr77Ile
- rs777044074
- ClinGen CA6668758
- ClinVar RCV002794819
- ExAC rs777044074
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.05
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.8e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)