A33V (p.Ala33Val) variant of SQSTM1 (Sequestosome-1)
A33V (p.Ala33Val) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- rs200396166
- ESP rs200396166
- ExAC rs200396166
- TOPMed rs200396166
- Conflicting interpretations
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.05
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Paget disease of bone 2, early-onse)
- EBI: Pathogenic (in FTDALS3)
- UniProt: Pathogenic (in FTDALS3)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.036)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.412
- Cited in: SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. (PMID 22084127)
- Cited in: SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral… (PMID 24042580)