p.Glu34 Ala39del variant of SQSTM1 (Sequestosome-1)
p.Glu34 Ala39del in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
p.Glu34 Ala39del variant details
- rs1757753971
- gnomAD 5-179821031-AGGCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 21.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.747
- Literature evidence available