M404V (p.Met404Val) variant of SQSTM1 (Sequestosome-1)
M404V (p.Met404Val) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
M404V (p.Met404Val) variant details
- p.Met404Val
- rs771966860
- ExAC rs771966860
- TOPMed rs771966860
- gnomAD rs771966860
- Pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.93
- CADD 23.50
- PolyPhen-2 0.33
- SIFT 0.58
- ClinVar: Pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 1;)
- EBI: Pathogenic (in PDB3)
- UniProt: Pathogenic (in PDB3)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's… (PMID 15125799)
- Cited in: Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis… (PMID 15176995)