K7E (p.Lys7Glu) variant of SQSTM1 (Sequestosome-1)
K7E (p.Lys7Glu) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K7E (p.Lys7Glu) variant details
- p.Lys7Glu
- gnomAD 5-179820955-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.43
- CADD 25.00
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.177
- Literature evidence available