R21H (p.Arg21His) variant of SQSTM1 (Sequestosome-1)
R21H (p.Arg21His) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R21H (p.Arg21His) variant details
- p.Arg21His
- gnomAD 5-179820998-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.65
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.01
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.554
- Literature evidence available