A16E (p.Ala16Glu) variant of SQSTM1 (Sequestosome-1)
A16E (p.Ala16Glu) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A16E (p.Ala16Glu) variant details
- p.Ala16Glu
- gnomAD 5-179820983-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.28
- CADD 20.60
- PolyPhen-2 0.06
- SIFT 0.21
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.911
- Literature evidence available