A8S (p.Ala8Ser) variant of SQSTM1 (Sequestosome-1)
A8S (p.Ala8Ser) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- gnomAD 5-179820958-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.26
- CADD 25.30
- PolyPhen-2 0.25
- SIFT 0.06
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.068
- Literature evidence available