I14V (p.Ile14Val) variant of TBK1 (Q9UHD2)
I14V (p.Ile14Val) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
I14V (p.Ile14Val) variant details
- p.Ile14Val
- rs781325780
- ClinGen CA6668702
- ClinVar RCV000546706
- ClinVar RCV005239216
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.11
- CADD 15.60
- PolyPhen-2 0.06
- SIFT 0.52
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)