E34G (p.Glu34Gly) variant of SQSTM1 (Sequestosome-1)
E34G (p.Glu34Gly) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E34G (p.Glu34Gly) variant details
- p.Glu34Gly
- Ensembl rs1757754274
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.19
- CADD 25.00
- PolyPhen-2 0.47
- SIFT 0.17
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.747