I43R (p.Ile43Arg) variant of TBK1 (Q9UHD2)
I43R (p.Ile43Arg) in TBK1 (Q9UHD2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Frontotemporal dementia and/or amyotrophic lateral sclerosis 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
I43R (p.Ile43Arg) variant details
- p.Ile43Arg
- rs756011825
- ClinGen CA6668723
- ClinVar RCV002607944
- ClinVar RCV004775306
- Uncertain significance
- not provided; Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.23
- CADD 25.40
- PolyPhen-2 0.51
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Frontotemporal dementia and/or amyotrophic lateral)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)