A16S (p.Ala16Ser) variant of EGFR (Epidermal growth factor receptor)
A16S (p.Ala16Ser) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- rs2128853424
- ClinGen CA367611240
- ClinVar RCV001361666
- Ensembl rs2128853424
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.10
- MetaLR 0.30
- MetaSVM -0.80
- CADD 14.30
- PolyPhen-2 0.02
- SIFT 0.95
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)