E19G (p.Glu19Gly) variant of SQSTM1 (Sequestosome-1)
E19G (p.Glu19Gly) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E19G (p.Glu19Gly) variant details
- p.Glu19Gly
- gnomAD rs1218111980
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.63
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.183