A21V (p.Ala21Val) variant of EGFR (Epidermal growth factor receptor)
A21V (p.Ala21Val) 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 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- rs1194702075
- ClinGen CA367611270
- ClinVar RCV001946158
- ClinVar RCV002258331
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.20
- MetaLR 0.31
- MetaSVM -0.78
- CADD 16.40
- PolyPhen-2 0.04
- SIFT 0.89
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 4.3e-05)
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score -0.636
- 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)