S32* (p.Ser32Ter) variant of SOCS1 (O15524)
S32* (p.Ser32Ter) in SOCS1 (O15524) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S32* (p.Ser32Ter) variant details
- p.Ser32Ter
- rs2141125364
- ClinGen CA394740763
- ClinVar RCV001531222
- Ensembl rs2141125364
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.674
- CADD 39.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available