T120A (p.Thr120Ala) variant of MED13L (Q71F56)
T120A (p.Thr120Ala) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
T120A (p.Thr120Ala) variant details
- p.Thr120Ala
- gnomAD rs1225135386
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.63
- ESM-1b 0.00
- AlphaMissense 0.92
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available