R74P (p.Arg74Pro) variant of MED13L (Q71F56)
R74P (p.Arg74Pro) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R74P (p.Arg74Pro) variant details
- p.Arg74Pro
- gnomAD rs1217509797
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.96
- ESM-1b 0.00
- AlphaMissense 0.98
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available