G44E (p.Gly44Glu) variant of MED13L (Q71F56)
G44E (p.Gly44Glu) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G44E (p.Gly44Glu) variant details
- p.Gly44Glu
- TOPMed rs777210650
- gnomAD rs777210650
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.58
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available