A24T (p.Ala24Thr) variant of EGFR (Epidermal growth factor receptor)
A24T (p.Ala24Thr) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A24T (p.Ala24Thr) variant details
- p.Ala24Thr
- rs911767401
- ClinGen CA159566185
- ClinVar RCV001234959
- ClinVar RCV003456482
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.11
- MetaLR 0.32
- MetaSVM -0.75
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.29
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)
- 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)