E32D (p.Glu32Asp) variant of SQSTM1 (Sequestosome-1)
E32D (p.Glu32Asp) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E32D (p.Glu32Asp) variant details
- p.Glu32Asp
- gnomAD 5-179821032-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.02
- CADD 18.50
- PolyPhen-2 0.01
- SIFT 0.64
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -1.05
- Literature evidence available