E36K (p.Glu36Lys) variant of SQSTM1 (Sequestosome-1)
E36K (p.Glu36Lys) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- rs376158712
- 1000Genomes rs376158712
- ESP rs376158712
- ExAC rs376158712
- Likely benign
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.06
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.24
- ClinVar: Likely benign (Frontotemporal dementia and/or amyotrophic lateral sclerosis 1;)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.467
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis. (PMID 25577942)