E111Q (p.Glu111Gln) variant of MED13L (Q71F56)
E111Q (p.Glu111Gln) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E111Q (p.Glu111Gln) variant details
- p.Glu111Gln
- TOPMed rs1874076707
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.57
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available