S37* (p.Ser37Ter) variant of SLC37A4 (O43826)
S37* (p.Ser37Ter) 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 0.64 / 1. The record also includes population frequency data and structural context.
S37* (p.Ser37Ter) variant details
- p.Ser37Ter
- gnomAD rs1444468055
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available