R47H (p.Arg47His) variant of TBK1 (Q9UHD2)
R47H (p.Arg47His) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R47H (p.Arg47His) variant details
- p.Arg47His
- Ensembl rs1555202365
- UniProt VAR 073938
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.74
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 4)
- EBI: Pathogenic (in FTDALS4)
- UniProt: Pathogenic (in FTDALS4)
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Cited in: Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. (PMID 25803835)
- Cited in: Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without… (PMID 25943890)