L4I (p.Leu4Ile) variant of SQSTM1 (Sequestosome-1)
L4I (p.Leu4Ile) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L4I (p.Leu4Ile) variant details
- p.Leu4Ile
- gnomAD 5-179820946-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.04
- CADD 19.20
- PolyPhen-2 0.08
- SIFT 0.05
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.404
- Literature evidence available