R22S (p.Arg22Ser) variant of SQSTM1 (Sequestosome-1)
R22S (p.Arg22Ser) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R22S (p.Arg22Ser) variant details
- p.Arg22Ser
- gnomAD 5-179821000-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.41
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.13
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.79
- Literature evidence available