A33T (p.Ala33Thr) variant of SQSTM1 (Sequestosome-1)
A33T (p.Ala33Thr) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.18 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A33T (p.Ala33Thr) variant details
- p.Ala33Thr
- rs1156716975
- TOPMed rs1156716975
- gnomAD rs1156716975
- ClinGen CA362442352
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.03
- CADD 21.60
- PolyPhen-2 0.03
- SIFT 0.29
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 1;)
- EBI: Variant of uncertain significance (in FTDALS3)
- UniProt: Uncertain significance (in FTDALS3)
- Most common in the East Asian population (allele frequency 0.00019)
- 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)