G5A (p.Gly5Ala) variant of EGFR (Epidermal growth factor receptor)
G5A (p.Gly5Ala) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G5A (p.Gly5Ala) variant details
- p.Gly5Ala
- rs759582787
- ClinGen CA367611184
- cosmic curated COSV51833
- ClinVar RCV001372918
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.18
- MetaLR 0.34
- MetaSVM -0.67
- CADD 7.68
- PolyPhen-2 0.10
- SIFT 0.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-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)