A33E (p.Ala33Glu) variant of SQSTM1 (Sequestosome-1)
A33E (p.Ala33Glu) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A33E (p.Ala33Glu) variant details
- p.Ala33Glu
- gnomAD 5-179821034-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.05
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.37
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.412
- Literature evidence available