W78* (p.Trp78Ter) variant of SLC37A4 (O43826)
W78* (p.Trp78Ter) in SLC37A4 (O43826) 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 0.86 / 1. The record also includes population frequency data and structural context.
W78* (p.Trp78Ter) variant details
- p.Trp78Ter
- Ensembl rs781857990
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 37.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available