E15* (p.Glu15Ter) variant of MED13L (Q71F56)
E15* (p.Glu15Ter) in MED13L (Q71F56) 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 0.79 / 1. The record also includes population frequency data and structural context.
E15* (p.Glu15Ter) variant details
- p.Glu15Ter
- rs1057520775
- ClinGen CA16606071
- ClinVar RCV000423089
- Ensembl rs1057520775
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.788
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available