S24I (p.Ser24Ile) variant of SQSTM1 (Sequestosome-1)
S24I (p.Ser24Ile) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S24I (p.Ser24Ile) variant details
- p.Ser24Ile
- gnomAD 5-179821007-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.12
- CADD 24.00
- PolyPhen-2 0.03
- SIFT 0.04
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.346
- Literature evidence available