V6L (p.Val6Leu) variant of SQSTM1 (Sequestosome-1)
V6L (p.Val6Leu) 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 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V6L (p.Val6Leu) variant details
- p.Val6Leu
- rs778461636
- ClinGen CA362442014
- ClinVar RCV001318936
- ExAC rs778461636
- Uncertain significance
- Paget disease of bone 2, early-onset; Frontotemporal dementia and/or amyotrophic
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.21
- CADD 23.70
- PolyPhen-2 0.13
- SIFT 0.01
- 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 2.7e-06)
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.188
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis. (PMID 25577942)