D860G (p.Asp860Gly) variant of MED13L (Q71F56)
D860G (p.Asp860Gly) 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; not provi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
D860G (p.Asp860Gly) variant details
- p.Asp860Gly
- rs1555246154
- ClinGen CA386890911
- ClinVar RCV000515945
- ClinVar RCV000687468
- Pathogenic/Likely pathogenic
- Cardiac anomalies - developmental delay - facial dysmorphism syndrome; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- ESM-1b 1.00
- AlphaMissense 0.87
- ClinVar: Pathogenic/Likely pathogenic (Cardiac anomalies - developmental delay - facial dysmorphism syn)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MED13L Syndrome. (PMID 40228085)