A7S (p.Ala7Ser) variant of EGFR (Epidermal growth factor receptor)
A7S (p.Ala7Ser) 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.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- ExAC rs761183109
- TOPMed rs761183109
- gnomAD rs761183109
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.12
- MetaLR 0.29
- MetaSVM -0.88
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.48
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available