A16V (p.Ala16Val) variant of SQSTM1 (Sequestosome-1)
A16V (p.Ala16Val) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FTDALS3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- rs1554162295
- UniProt VAR 073899
- Ensembl rs1554162295
- Pathogenic
- in FTDALS3
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.69
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.28
- EBI: Pathogenic (in FTDALS3)
- UniProt: Pathogenic (in FTDALS3)
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.911
- Cited in: Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. (PMID 24899140)
- Cited in: SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. (PMID 22084127)