A21T (p.Ala21Thr) variant of EGFR (Epidermal growth factor receptor)
A21T (p.Ala21Thr) in EGFR (Epidermal growth factor receptor) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- rs373129709
- ClinGen CA4265111
- ClinVar RCV001052362
- ClinVar RCV003145300
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.14
- MetaLR 0.32
- MetaSVM -0.87
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.47
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- 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)