R33H (p.Arg33His) variant of MED13L (Q71F56)
R33H (p.Arg33His) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R33H (p.Arg33His) variant details
- p.Arg33His
- gnomAD rs1425933908
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.71
- ESM-1b 0.00
- AlphaMissense 0.47
- CADD 27.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available