S3* (p.Ser3Ter) variant of SQSTM1 (Sequestosome-1)
S3* (p.Ser3Ter) in SQSTM1 (Sequestosome-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S3* (p.Ser3Ter) variant details
- p.Ser3Ter
- ExAC rs777501273
- gnomAD rs777501273
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.797