E30D (p.Glu30Asp) variant of SQSTM1 (Sequestosome-1)
E30D (p.Glu30Asp) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E30D (p.Glu30Asp) variant details
- p.Glu30Asp
- gnomAD 5-179821026-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.06
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.51
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.358
- Literature evidence available