A13T (p.Ala13Thr) variant of EGFR (Epidermal growth factor receptor)
A13T (p.Ala13Thr) in EGFR (Epidermal growth factor receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- rs2128853391
- ClinGen CA367611225
- cosmic curated COSV51797
- ClinVar RCV003860780
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.20
- MetaLR 0.33
- MetaSVM -0.90
- CADD 5.49
- PolyPhen-2 0.00
- SIFT 0.54
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.2e-05)
- 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)