A16S (p.Ala16Ser) variant of SQSTM1 (Sequestosome-1)
A16S (p.Ala16Ser) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in FTDALS3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- ExAC rs773552098
- TOPMed rs773552098
- gnomAD rs773552098
- Uncertain significance
- in FTDALS3
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.04
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.47
- EBI: Variant of uncertain significance (in FTDALS3)
- UniProt: Uncertain significance (in FTDALS3)
- Most common in the South Asian population (allele frequency 3.6e-05)
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.911