G411S (p.Gly411Ser) variant of SQSTM1 (Sequestosome-1)
G411S (p.Gly411Ser) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Paget disease of bone 3; Frontotemporal dementia and/or amyotrophic lateral scle. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G411S (p.Gly411Ser) variant details
- p.Gly411Ser
- rs143511494
- ClinGen CA3600867
- ClinVar RCV001972785
- ClinVar RCV003147715
- Pathogenic/Likely pathogenic
- Paget disease of bone 3; Frontotemporal dementia and/or amyotrophic lateral scle
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Paget disease of bone 3; Frontotemporal dementia and/or amyotrop)
- EBI: Pathogenic (in PDB3 and FTDALS3)
- UniProt: Pathogenic (in PDB3 and FTDALS3)
- Most common in the South Asian population (allele frequency 0.0003)
- Structural context available
- Cited in: Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis… (PMID 15176995)
- Cited in: SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. (PMID 22084127)