E194K (p.Glu194Lys) variant of MED13L (Q71F56)
E194K (p.Glu194Lys) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
E194K (p.Glu194Lys) variant details
- p.Glu194Lys
- Ensembl rs1237731204
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.09
- Structural context available