G12A (p.Gly12Ala) variant of SQSTM1 (Sequestosome-1)
G12A (p.Gly12Ala) in SQSTM1 (Sequestosome-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G12A (p.Gly12Ala) variant details
- p.Gly12Ala
- gnomAD 5-179820968-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 26.40
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.849
- Literature evidence available