E32V (p.Glu32Val) variant of SQSTM1 (Sequestosome-1)
E32V (p.Glu32Val) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E32V (p.Glu32Val) variant details
- p.Glu32Val
- gnomAD 5-179821031-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.05
- CADD 24.50
- PolyPhen-2 0.15
- SIFT 0.12
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -1.05
- Literature evidence available