G8V (p.Gly8Val) variant of EGFR (Epidermal growth factor receptor)
G8V (p.Gly8Val) 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 0.27 / 1. The record also includes population frequency data and structural context.
G8V (p.Gly8Val) variant details
- p.Gly8Val
- Ensembl rs1786368377
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.21
- MetaLR 0.40
- MetaSVM -0.67
- CADD 19.40
- PolyPhen-2 0.08
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available