T6A (p.Thr6Ala) variant of EGFR (Epidermal growth factor receptor)
T6A (p.Thr6Ala) in EGFR (Epidermal growth factor receptor) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T6A (p.Thr6Ala) variant details
- p.Thr6Ala
- rs767651648
- ClinGen CA4265101
- ClinVar RCV001338455
- ClinVar RCV005328249
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.14
- MetaLR 0.18
- MetaSVM -1.00
- CADD 5.96
- PolyPhen-2 0.00
- SIFT 0.59
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.854
- Cited in: Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors… (PMID 23562183)
- Cited in: Treatment of stage IV non-small cell lung cancer: Diagnosis and management of lung cancer, 3rd ed: American College of… (PMID 23649446)