H198L (p.His198Leu) variant of MED13L (Q71F56)
H198L (p.His198Leu) in MED13L (Q71F56) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
H198L (p.His198Leu) variant details
- p.His198Leu
- ExAC rs764593997
- gnomAD rs764593997
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- EBI: Benign
- UniProt: Benign
- Structural context available