L11M (p.Leu11Met) variant of SQSTM1 (Sequestosome-1)
L11M (p.Leu11Met) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L11M (p.Leu11Met) variant details
- p.Leu11Met
- gnomAD 5-179820967-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.11
- CADD 23.50
- PolyPhen-2 0.10
- SIFT 0.12
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.678
- Literature evidence available