R21C (p.Arg21Cys) variant of SQSTM1 (Sequestosome-1)
R21C (p.Arg21Cys) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R21C (p.Arg21Cys) variant details
- p.Arg21Cys
- gnomAD 5-179820997-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.37
- CADD 27.40
- PolyPhen-2 0.27
- SIFT 0.19
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.554
- Literature evidence available