W110* (p.Trp110Ter) variant of MED13L (Q71F56)
W110* (p.Trp110Ter) in MED13L (Q71F56) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
W110* (p.Trp110Ter) variant details
- p.Trp110Ter
- rs2137899543
- ClinGen CA386927135
- ClinVar RCV002274459
- Ensembl rs2137899543
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: MED13L Syndrome. (PMID 40228085)