A17T (p.Ala17Thr) variant of SQSTM1 (Sequestosome-1)
A17T (p.Ala17Thr) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- gnomAD 5-179820985-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.06
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.898
- Literature evidence available