Q201K (p.Gln201Lys) variant of MED13L (Q71F56)
Q201K (p.Gln201Lys) in MED13L (Q71F56) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
Q201K (p.Gln201Lys) variant details
- p.Gln201Lys
- Ensembl rs1029377279
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- ESM-1b 0.00
- AlphaMissense 0.14
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available