A13E (p.Ala13Glu) variant of EGFR (Epidermal growth factor receptor)
A13E (p.Ala13Glu) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A13E (p.Ala13Glu) variant details
- p.Ala13Glu
- rs567894670
- ClinGen CA367611226
- cosmic curated COSV10729
- ClinVar RCV003822410
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.37
- MetaLR 0.37
- MetaSVM -0.62
- CADD 0.46
- PolyPhen-2 0.04
- SIFT 0.36
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.3e-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)