A8D (p.Ala8Asp) variant of SQSTM1 (Sequestosome-1)
A8D (p.Ala8Asp) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A8D (p.Ala8Asp) variant details
- p.Ala8Asp
- gnomAD 5-179820959-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.59
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.068
- Literature evidence available