A33S (p.Ala33Ser) variant of SQSTM1 (Sequestosome-1)
A33S (p.Ala33Ser) 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 0.18 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A33S (p.Ala33Ser) variant details
- p.Ala33Ser
- rs1156716975
- TOPMed rs1156716975
- gnomAD rs1156716975
- ClinGen CA362442354
- Uncertain significance
- Paget disease of bone 2, early-onset; Frontotemporal dementia and/or amyotrophic
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.04
- CADD 20.80
- PolyPhen-2 0.08
- SIFT 0.39
- ClinVar: Uncertain significance (Paget disease of bone 2, early-onset; Frontotemporal dementia an)
- EBI: Variant of uncertain significance (in FTDALS3)
- UniProt: Uncertain significance (in FTDALS3)
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.412
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis. (PMID 25577942)