T867I (p.Thr867Ile) variant of MED13L (Q71F56)
T867I (p.Thr867Ile) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiac anomalies - developmental delay - facial dysmorphism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
T867I (p.Thr867Ile) variant details
- p.Thr867Ile
- rs1555246143
- ClinGen CA386890860
- ClinVar RCV000578378
- Ensembl rs1555246143
- Likely pathogenic
- Cardiac anomalies - developmental delay - facial dysmorphism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- ESM-1b 0.75
- AlphaMissense 0.97
- ClinVar: Likely pathogenic (Cardiac anomalies - developmental delay - facial dysmorphism syn)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: MED13L Syndrome. (PMID 40228085)