M404T (p.Met404Thr) variant of SQSTM1 (Sequestosome-1)
M404T (p.Met404Thr) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
M404T (p.Met404Thr) variant details
- p.Met404Thr
- rs1247551175
- ClinGen CA362453763
- ClinVar RCV001060204
- UniProt VAR 023595
- Pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.93
- CADD 25.70
- PolyPhen-2 0.62
- SIFT 0.21
- ClinVar: Pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 1;)
- EBI: Pathogenic (in PDB3)
- UniProt: Pathogenic (in PDB3)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene… (PMID 15146436)
- Cited in: Polyubiquitin chain-induced p62 phase separation drives autophagic cargo segregation. (PMID 29507397)