T2162M (p.Thr2162Met) variant of MED13L (Q71F56)
T2162M (p.Thr2162Met) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiac anomalies - developmental delay - facial dysmorphism syndrome; Paediatri. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
T2162M (p.Thr2162Met) variant details
- p.Thr2162Met
- rs869312707
- ClinGen CA353441
- ClinVar RCV000209918
- ClinVar RCV001268238
- Pathogenic/Likely pathogenic
- Cardiac anomalies - developmental delay - facial dysmorphism syndrome; Paediatri
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- ESM-1b 0.00
- AlphaMissense 0.93
- MetaLR 0.83
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiac anomalies - developmental delay - facial dysmorphism syn)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MED13L Syndrome. (PMID 40228085)