N22D (p.Asn22Asp) variant of TBK1 (Q9UHD2)
N22D (p.Asn22Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
N22D (p.Asn22Asp) variant details
- p.Asn22Asp
- rs576726084
- ClinGen CA238248254
- ClinVar RCV001965440
- TOPMed rs576726084
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.31
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)