A16T (p.Ala16Thr) variant of SQSTM1 (Sequestosome-1)
A16T (p.Ala16Thr) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SQSTM1-related disorder; Inborn genetic diseases; Frontotemporal dementia and/or. 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.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- rs773552098
- ExAC rs773552098
- TOPMed rs773552098
- gnomAD rs773552098
- Uncertain significance
- SQSTM1-related disorder; Inborn genetic diseases; Frontotemporal dementia and/or
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.04
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (SQSTM1-related disorder; Inborn genetic diseases; Frontotemporal)
- EBI: Variant of uncertain significance (in FTDALS3)
- UniProt: Uncertain significance (in FTDALS3)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.911
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis. (PMID 25577942)