Q187R (p.Gln187Arg) variant of MED13L (Q71F56)
Q187R (p.Gln187Arg) 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.
Q187R (p.Gln187Arg) variant details
- p.Gln187Arg
- TOPMed rs1180926146
- gnomAD rs1180926146
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.38
- CADD 25.70
- PolyPhen-2 0.66
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available