Y9T (p.Tyr9Thr) variant of SQSTM1 (Sequestosome-1)
Y9T (p.Tyr9Thr) in SQSTM1 (Sequestosome-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y9T (p.Tyr9Thr) variant details
- p.Tyr9Thr
- gnomAD 5-179820960-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.452
- CADD 29.60
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -1.08
- Literature evidence available