N42S (p.Asn42Ser) variant of TBK1 (Q9UHD2)
N42S (p.Asn42Ser) in TBK1 (Q9UHD2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
N42S (p.Asn42Ser) variant details
- p.Asn42Ser
- rs748061846
- ClinGen CA6668722
- NCI-TCGA Cosmic COSV5915
- ClinVar RCV001948003
- Conflicting interpretations
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.12
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Conflicting classifications of pathogenicity (Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)