V30A (p.Val30Ala) variant of EGFR (Epidermal growth factor receptor)
V30A (p.Val30Ala) 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 0.62 / 1. The record also includes published literature and structural context.
V30A (p.Val30Ala) variant details
- p.Val30Ala
- rs1794501851
- ClinGen CA367574045
- ClinVar RCV001309195
- Ensembl rs1794501851
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- AlphaMissense 0.67
- MetaLR 0.66
- MetaSVM 0.32
- PolyPhen-2 0.10
- SIFT 0.03
- MutPred 0.43
- 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)