Q208R (p.Gln208Arg) variant of MED13L (Q71F56)
Q208R (p.Gln208Arg) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
Q208R (p.Gln208Arg) variant details
- p.Gln208Arg
- TOPMed rs1370064475
- gnomAD rs1370064475
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 28.30
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available