Q565P (p.Gln565Pro) variant of TBK1 (Q9UHD2)
Q565P (p.Gln565Pro) in TBK1 (Q9UHD2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Frontotemporal dementia and/or amyotrophic lateral sclerosis 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
Q565P (p.Gln565Pro) variant details
- p.Gln565Pro
- TOPMed rs1294608700
- gnomAD rs1294608700
- Likely pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.47
- CADD 26.80
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 4)
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available