P869L (p.Pro869Leu) variant of MED13L (Q71F56)
P869L (p.Pro869Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
P869L (p.Pro869Leu) variant details
- p.Pro869Leu
- rs1878458116
- ClinGen CA386890851
- ClinVar RCV003985955
- ClinVar RCV004723547
- Pathogenic/Likely pathogenic
- Cardiac anomalies - developmental delay - facial dysmorphism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.994
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic/Likely pathogenic (Cardiac anomalies - developmental delay - facial dysmorphism syn)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MED13L Syndrome. (PMID 40228085)