A35D (p.Ala35Asp) variant of SQSTM1 (Sequestosome-1)
A35D (p.Ala35Asp) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A35D (p.Ala35Asp) variant details
- p.Ala35Asp
- gnomAD 5-179821040-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.06
- CADD 22.90
- PolyPhen-2 0.93
- SIFT 0.55
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -1.02
- Literature evidence available