S28I (p.Ser28Ile) variant of SQSTM1 (Sequestosome-1)
S28I (p.Ser28Ile) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S28I (p.Ser28Ile) variant details
- p.Ser28Ile
- gnomAD 5-179821019-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.12
- CADD 24.10
- PolyPhen-2 0.70
- SIFT 0.02
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.56
- Literature evidence available