E14D (p.Glu14Asp) variant of SQSTM1 (Sequestosome-1)
E14D (p.Glu14Asp) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E14D (p.Glu14Asp) variant details
- p.Glu14Asp
- gnomAD 5-179820978-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.03
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.70
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.417
- Literature evidence available