A7V (p.Ala7Val) variant of EGFR (Epidermal growth factor receptor)
A7V (p.Ala7Val) 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 0.15 / 1. The record also includes population frequency data and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- Ensembl rs1786367350
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.15
- MetaLR 0.31
- MetaSVM -0.88
- CADD 0.98
- PolyPhen-2 0.00
- SIFT 0.39
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available