N63S (p.Asn63Ser) variant of TBK1 (Q9UHD2)
N63S (p.Asn63Ser) in TBK1 (Q9UHD2) is a missense change. Clinical records from ClinVar 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 0.44 / 1. The record also includes population frequency data and structural context.
N63S (p.Asn63Ser) variant details
- p.Asn63Ser
- rs565166649
- 1000Genomes rs565166649
- TOPMed rs565166649
- gnomAD rs565166649
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.30
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 4)
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available