E14* (p.Glu14Ter) variant of SOS1 (Son of sevenless homolog 1)
E14* (p.Glu14Ter) in SOS1 (Son of sevenless homolog 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 0.82 / 1. The record also includes population frequency data and structural context.
E14* (p.Glu14Ter) variant details
- p.Glu14Ter
- rs2148243262
- ClinGen CA346374693
- ClinVar RCV002267519
- Ensembl rs2148243262
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.824
- CADD 38.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available