A33A (p.Ala33Ala) variant of SQSTM1 (Sequestosome-1)
A33A (p.Ala33Ala) in SQSTM1 (Sequestosome-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A33A (p.Ala33Ala) variant details
- p.Ala33Ala
- gnomAD 5-179821035-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 6.72
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.412
- Literature evidence available