T6M (p.Thr6Met) variant of EGFR (Epidermal growth factor receptor)
T6M (p.Thr6Met) in EGFR (Epidermal growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T6M (p.Thr6Met) variant details
- p.Thr6Met
- Ensembl rs2128853330
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.20
- MetaLR 0.29
- MetaSVM -0.79
- CADD 14.40
- PolyPhen-2 0.02
- SIFT 0.09
- Population evidence available
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.854