S28G (p.Ser28Gly) variant of SQSTM1 (Sequestosome-1)
S28G (p.Ser28Gly) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S28G (p.Ser28Gly) variant details
- p.Ser28Gly
- gnomAD 5-179821018-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.06
- CADD 22.70
- PolyPhen-2 0.17
- SIFT 0.23
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.56
- Literature evidence available