E107G (p.Glu107Gly) variant of MED13L (Q71F56)
E107G (p.Glu107Gly) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E107G (p.Glu107Gly) variant details
- p.Glu107Gly
- Ensembl rs1874077663
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.35
- CADD 30.00
- PolyPhen-2 0.90
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available