G44V (p.Gly44Val) variant of MED13L (Q71F56)
G44V (p.Gly44Val) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes structural context.
G44V (p.Gly44Val) variant details
- p.Gly44Val
- TOPMed rs777210650
- gnomAD rs777210650
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- ESM-1b 0.00
- AlphaMissense 0.35
- Structural context available