D16G (p.Asp16Gly) variant of MED13L (Q71F56)
D16G (p.Asp16Gly) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac anomalies - developmental delay - facial dysmorphism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes published literature and structural context.
D16G (p.Asp16Gly) variant details
- p.Asp16Gly
- rs2500191290
- ClinGen CA386927912
- ClinVar RCV003337954
- Uncertain significance
- Cardiac anomalies - developmental delay - facial dysmorphism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- ESM-1b 0.00
- AlphaMissense 0.99
- ClinVar: Uncertain significance (Cardiac anomalies - developmental delay - facial dysmorphism syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: MED13L Syndrome. (PMID 40228085)