T6K (p.Thr6Lys) variant of EGFR (Epidermal growth factor receptor)
T6K (p.Thr6Lys) in EGFR (Epidermal growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T6K (p.Thr6Lys) variant details
- p.Thr6Lys
- gnomAD 7-55019294-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.13
- MetaLR 0.31
- MetaSVM -0.80
- CADD 8.86
- PolyPhen-2 0.01
- SIFT 0.24
- Population evidence available
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.854
- Literature evidence available