P3A (p.Pro3Ala) variant of EGFR (Epidermal growth factor receptor)
P3A (p.Pro3Ala) 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 0.41 / 1. The record also includes published literature and structural context.
P3A (p.Pro3Ala) variant details
- p.Pro3Ala
- rs773069229
- ClinGen CA367611174
- ClinVar RCV001324494
- ExAC rs773069229
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- AlphaMissense 0.07
- MetaLR 0.35
- MetaSVM -0.71
- PolyPhen-2 0.18
- SIFT 0.01
- MutPred 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)