A24D (p.Ala24Asp) variant of EGFR (Epidermal growth factor receptor)
A24D (p.Ala24Asp) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A24D (p.Ala24Asp) variant details
- p.Ala24Asp
- rs1786374464
- ClinGen CA367611286
- ClinVar RCV002014150
- gnomAD rs1786374464
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.40
- MetaLR 0.44
- MetaSVM -0.19
- CADD 23.30
- PolyPhen-2 0.19
- SIFT 0.13
- 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)