T168I (p.Thr168Ile) variant of MED13L (Q71F56)
T168I (p.Thr168Ile) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
T168I (p.Thr168Ile) variant details
- p.Thr168Ile
- gnomAD rs1163644528
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.44
- CADD 27.60
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2e-05)
- Structural context available