W96* (p.Trp96Ter) variant of SLC37A4 (O43826)
W96* (p.Trp96Ter) 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.
W96* (p.Trp96Ter) variant details
- p.Trp96Ter
- gnomAD rs121908976
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.868
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.3e-05)
- Structural context available