S57* (p.Ser57Ter) variant of SLC37A4 (O43826)
S57* (p.Ser57Ter) in SLC37A4 (O43826) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
S57* (p.Ser57Ter) variant details
- p.Ser57Ter
- ESP rs374848317
- ExAC rs374848317
- TOPMed rs374848317
- gnomAD rs374848317
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 42.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available