L10I (p.Leu10Ile) variant of SQSTM1 (Sequestosome-1)
L10I (p.Leu10Ile) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L10I (p.Leu10Ile) variant details
- p.Leu10Ile
- gnomAD 5-179820964-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.25
- CADD 27.50
- PolyPhen-2 0.95
- SIFT 0.06
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.267
- Literature evidence available