A2E (p.Ala2Glu) variant of SQSTM1 (Sequestosome-1)
A2E (p.Ala2Glu) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- 1000Genomes rs377371202
- ESP rs377371202
- ExAC rs377371202
- TOPMed rs377371202
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.03
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.952