D153H (p.Asp153His) variant of MED13L (Q71F56)
D153H (p.Asp153His) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D153H (p.Asp153His) variant details
- p.Asp153His
- TOPMed rs1030833267
- gnomAD rs1030833267
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 24.60
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available