R34T (p.Arg34Thr) variant of MED13L (Q71F56)
R34T (p.Arg34Thr) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R34T (p.Arg34Thr) variant details
- p.Arg34Thr
- TOPMed rs1162486120
- gnomAD rs1162486120
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.81
- CADD 25.70
- PolyPhen-2 0.77
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available