D50A (p.Asp50Ala) variant of TBK1 (Q9UHD2)
D50A (p.Asp50Ala) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
D50A (p.Asp50Ala) variant details
- p.Asp50Ala
- rs1010930015
- ClinGen CA238250177
- ClinVar RCV000586295
- ClinVar RCV003588649
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.50
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;)
- EBI: Pathogenic (in IIAE8)
- UniProt: Pathogenic (in IIAE8)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood. (PMID 22851595)
- Cited in: Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis. (PMID 26513235)