A7D (p.Ala7Asp) variant of EGFR (Epidermal growth factor receptor)
A7D (p.Ala7Asp) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A7D (p.Ala7Asp) variant details
- p.Ala7Asp
- rs1786367350
- ClinGen CA367611192
- ClinVar RCV001210508
- ClinVar RCV005328588
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.23
- MetaLR 0.30
- MetaSVM -0.84
- CADD 11.10
- PolyPhen-2 0.01
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-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)