Q223H (p.Gln223His) variant of MED13L (Q71F56)
Q223H (p.Gln223His) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q223H (p.Gln223His) variant details
- p.Gln223His
- TOPMed rs1879956428
- gnomAD rs1879956428
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.24
- CADD 17.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available