G12V (p.Gly12Val) variant of SQSTM1 (Sequestosome-1)
G12V (p.Gly12Val) 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 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- rs866832054
- ClinGen CA362442072
- ClinVar RCV001224713
- ClinVar RCV004778014
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.49
- CADD 32.00
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 1;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- 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)