L10H (p.Leu10His) variant of SQSTM1 (Sequestosome-1)
L10H (p.Leu10His) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L10H (p.Leu10His) variant details
- p.Leu10His
- gnomAD 5-179820965-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.62
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.267
- Literature evidence available