E14Q (p.Glu14Gln) variant of SQSTM1 (Sequestosome-1)
E14Q (p.Glu14Gln) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E14Q (p.Glu14Gln) variant details
- p.Glu14Gln
- gnomAD 5-179820976-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.19
- CADD 29.90
- PolyPhen-2 0.63
- SIFT 0.04
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.417
- Literature evidence available