A21S (p.Ala21Ser) variant of EGFR (Epidermal growth factor receptor)
A21S (p.Ala21Ser) 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 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A21S (p.Ala21Ser) variant details
- p.Ala21Ser
- rs373129709
- ClinGen CA4265112
- ClinVar RCV001207978
- ClinVar RCV005821919
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.15
- MetaLR 0.28
- MetaSVM -0.86
- CADD 9.42
- PolyPhen-2 0.02
- SIFT 0.64
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 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)