A33G (p.Ala33Gly) variant of SQSTM1 (Sequestosome-1)
A33G (p.Ala33Gly) 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 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A33G (p.Ala33Gly) variant details
- p.Ala33Gly
- rs200396166
- ESP rs200396166
- ExAC rs200396166
- TOPMed rs200396166
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.05
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 1;)
- EBI: Pathogenic (in FTDALS3)
- UniProt: Pathogenic (in FTDALS3)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)