A16T (p.Ala16Thr) variant of EGFR (Epidermal growth factor receptor)
A16T (p.Ala16Thr) 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 0.28 / 1. The record also includes population frequency data and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- cosmic curated COSV51794
- Ensembl rs2128853424
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.15
- MetaLR 0.30
- MetaSVM -0.81
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.57
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available