G5R (p.Gly5Arg) variant of EGFR (Epidermal growth factor receptor)
G5R (p.Gly5Arg) 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.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- rs774487133
- ExAC rs774487133
- gnomAD rs774487133
- ClinGen CA4265099
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.16
- MetaLR 0.40
- MetaSVM -0.67
- CADD 11.60
- PolyPhen-2 0.01
- SIFT 0.36
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- 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)