A13V (p.Ala13Val) variant of EGFR (Epidermal growth factor receptor)
A13V (p.Ala13Val) in EGFR (Epidermal growth factor receptor) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- rs567894670
- ClinGen CA4265108
- ClinVar RCV001064016
- ClinVar RCV004950227
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.18
- MetaLR 0.26
- MetaSVM -0.88
- CADD 0.35
- PolyPhen-2 0.00
- SIFT 0.76
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:SURUI population (allele frequency 0.43)
- 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)