E19K (p.Glu19Lys) variant of SQSTM1 (Sequestosome-1)
E19K (p.Glu19Lys) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- gnomAD 5-179820991-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.67
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.183
- Literature evidence available