A17S (p.Ala17Ser) variant of SQSTM1 (Sequestosome-1)
A17S (p.Ala17Ser) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- gnomAD 5-179820985-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.03
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.66
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.898
- Literature evidence available