R33C (p.Arg33Cys) variant of MED13L (Q71F56)
R33C (p.Arg33Cys) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R33C (p.Arg33Cys) variant details
- p.Arg33Cys
- gnomAD rs1164859305
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.88
- ESM-1b 0.00
- AlphaMissense 0.47
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available