E389Q (p.Glu389Gln) variant of SQSTM1 (Sequestosome-1)
E389Q (p.Glu389Gln) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Paget disease of bone 2, early-onset; Frontotemporal dementia and/or amyotrophic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E389Q (p.Glu389Gln) variant details
- p.Glu389Gln
- rs1391182750
- TOPMed rs1391182750
- gnomAD rs1391182750
- ClinGen CA362453134
- Pathogenic
- Paget disease of bone 2, early-onset; Frontotemporal dementia and/or amyotrophic
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.51
- CADD 33.00
- PolyPhen-2 0.34
- SIFT 0.02
- ClinVar: Pathogenic (Paget disease of bone 2, early-onset; Frontotemporal dementia an)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis. (PMID 25577942)