G12R (p.Gly12Arg) variant of SQSTM1 (Sequestosome-1)
G12R (p.Gly12Arg) 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 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- rs748465743
- ClinGen CA3600362
- ClinVar RCV002927388
- ExAC rs748465743
- Uncertain significance
- Paget disease of bone 2, early-onset; Frontotemporal dementia and/or amyotrophic
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.34
- CADD 26.40
- PolyPhen-2 0.72
- SIFT 0.12
- 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 2.1e-05)
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.849
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis. (PMID 25577942)