I126F (p.Ile126Phe) variant of MED13L (Q71F56)
I126F (p.Ile126Phe) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
I126F (p.Ile126Phe) variant details
- p.Ile126Phe
- gnomAD rs1281449393
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.55
- ESM-1b 0.59
- AlphaMissense 0.86
- CADD 28.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available