C27Y (p.Cys27Tyr) variant of SQSTM1 (Sequestosome-1)
C27Y (p.Cys27Tyr) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C27Y (p.Cys27Tyr) variant details
- p.Cys27Tyr
- gnomAD 5-179821016-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.01
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.406
- Literature evidence available