I73V (p.Ile73Val) variant of TBK1 (Q9UHD2)
I73V (p.Ile73Val) 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; TBK1-related dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
I73V (p.Ile73Val) variant details
- p.Ile73Val
- rs751253214
- ClinGen CA6668734
- ClinVar RCV002938131
- ClinVar RCV003403964
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; TBK1-related dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.09
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)