R22L (p.Arg22Leu) variant of SQSTM1 (Sequestosome-1)
R22L (p.Arg22Leu) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R22L (p.Arg22Leu) variant details
- p.Arg22Leu
- gnomAD 5-179821001-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.66
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.16
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.79
- Literature evidence available