W88* (p.Trp88Ter) variant of MED13L (Q71F56)

Name: MED13L W88* (p.Trp88Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

W88* (p.Trp88Ter) in MED13L (Q71F56) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

W88* (p.Trp88Ter) variant details

p.Trp88Ter
rs1870202051
ClinGen CA386927299
ClinVar RCV001047664
ClinVar RCV001171634
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)