D79E (p.Asp79Glu) variant of MED13L (Q71F56)
D79E (p.Asp79Glu) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D79E (p.Asp79Glu) variant details
- p.Asp79Glu
- ExAC rs765533860
- gnomAD rs765533860
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available