E34A (p.Glu34Ala) variant of SQSTM1 (Sequestosome-1)
E34A (p.Glu34Ala) 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.
E34A (p.Glu34Ala) variant details
- p.Glu34Ala
- gnomAD 5-179821037-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.15
- CADD 23.10
- PolyPhen-2 0.40
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.747
- Literature evidence available