A7T (p.Ala7Thr) variant of EGFR (Epidermal growth factor receptor)
A7T (p.Ala7Thr) 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 0.20 / 1. The record also includes population frequency data and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- NCI-TCGA TCGA novel
- ExAC rs761183109
- TOPMed rs761183109
- gnomAD rs761183109
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.11
- MetaLR 0.27
- MetaSVM -0.89
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 4.3e-05)
- Structural context available