A10T (p.Ala10Thr) variant of EGFR (Epidermal growth factor receptor)
A10T (p.Ala10Thr) in EGFR (Epidermal growth factor receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of EGFR-related lung cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- rs2128853375
- ClinGen CA367611206
- ClinVar RCV003649687
- Ensembl rs2128853375
- Uncertain significance
- EGFR-related lung cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.13
- MetaLR 0.30
- MetaSVM -0.90
- CADD 9.30
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Uncertain significance (EGFR-related lung cancer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- 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)