K13E (p.Lys13Glu) variant of SQSTM1 (Sequestosome-1)
K13E (p.Lys13Glu) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K13E (p.Lys13Glu) variant details
- p.Lys13Glu
- rs2480198674
- ClinGen CA362442076
- ClinVar RCV003799252
- Uncertain significance
- Paget disease of bone 2, early-onset; Frontotemporal dementia and/or amyotrophic
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.25
- CADD 25.40
- PolyPhen-2 0.13
- SIFT 0.04
- ClinVar: Uncertain significance (Paget disease of bone 2, early-onset; Frontotemporal dementia an)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.63
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis. (PMID 25577942)