C43F (p.Cys43Phe) variant of MED13L (Q71F56)
C43F (p.Cys43Phe) 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.
C43F (p.Cys43Phe) variant details
- p.Cys43Phe
- TOPMed rs1870215335
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.11
- Structural context available