L58* (p.Leu58Ter) variant of MED13L (Q71F56)

Name: MED13L L58* (p.Leu58Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

L58* (p.Leu58Ter) 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.

L58* (p.Leu58Ter) variant details

p.Leu58Ter
rs1870211191
ClinGen CA386927510
ClinVar RCV001257598
Ensembl rs1870211191
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)