R22H (p.Arg22His) variant of SQSTM1 (Sequestosome-1)
R22H (p.Arg22His) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R22H (p.Arg22His) variant details
- p.Arg22His
- gnomAD 5-179821001-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.70
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.79
- Literature evidence available