Y9C (p.Tyr9Cys) variant of SQSTM1 (Sequestosome-1)
Y9C (p.Tyr9Cys) 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 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y9C (p.Tyr9Cys) variant details
- p.Tyr9Cys
- rs1295820640
- TOPMed rs1295820640
- gnomAD rs1295820640
- ClinGen CA362442036
- Uncertain significance
- Paget disease of bone 2, early-onset; Frontotemporal dementia and/or amyotrophic
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.49
- CADD 32.00
- PolyPhen-2 0.98
- 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 REMAINING population (allele frequency 6.8e-05)
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -1.08
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis. (PMID 25577942)