R22C (p.Arg22Cys) variant of SQSTM1 (Sequestosome-1)
R22C (p.Arg22Cys) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R22C (p.Arg22Cys) variant details
- p.Arg22Cys
- gnomAD 5-179821000-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.44
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.13
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.79
- Literature evidence available