P204S (p.Pro204Ser) variant of MED13L (Q71F56)
P204S (p.Pro204Ser) in MED13L (Q71F56) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
P204S (p.Pro204Ser) variant details
- p.Pro204Ser
- gnomAD rs1472219916
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available