K29T (p.Lys29Thr) variant of EGFR (Epidermal growth factor receptor)
K29T (p.Lys29Thr) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K29T (p.Lys29Thr) variant details
- p.Lys29Thr
- rs774551548
- ClinGen CA4265116
- ClinVar RCV001343204
- ClinVar RCV006391932
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.16
- MetaLR 0.37
- MetaSVM -0.64
- CADD 19.80
- PolyPhen-2 0.03
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)