A9T (p.Ala9Thr) variant of EGFR (Epidermal growth factor receptor)
A9T (p.Ala9Thr) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- rs2128853368
- ClinGen CA367611200
- ClinVar RCV003651400
- ClinVar RCV005325800
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.15
- MetaLR 0.25
- MetaSVM -0.92
- CADD 8.72
- PolyPhen-2 0.00
- SIFT 0.40
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- 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)