R21S (p.Arg21Ser) variant of SQSTM1 (Sequestosome-1)
R21S (p.Arg21Ser) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R21S (p.Arg21Ser) variant details
- p.Arg21Ser
- gnomAD 5-179820997-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.54
- CADD 30.00
- PolyPhen-2 0.73
- SIFT 0.04
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.554
- Literature evidence available