L216F (p.Leu216Phe) variant of MED13L (Q71F56)
L216F (p.Leu216Phe) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes structural context.
L216F (p.Leu216Phe) variant details
- p.Leu216Phe
- gnomAD rs1475891731
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- ESM-1b 1.00
- AlphaMissense 0.55
- Structural context available