A9S (p.Ala9Ser) variant of EGFR (Epidermal growth factor receptor)
A9S (p.Ala9Ser) 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.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- rs2128853368
- ClinGen CA367611202
- ClinVar RCV002903744
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.10
- MetaLR 0.33
- MetaSVM -0.87
- CADD 5.77
- PolyPhen-2 0.01
- SIFT 0.39
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)