E27K (p.Glu27Lys) variant of EGFR (Epidermal growth factor receptor)
E27K (p.Glu27Lys) in EGFR (Epidermal growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- cosmic curated COSV10729
- Ensembl rs1583836261
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.25
- MetaLR 0.41
- MetaSVM -0.33
- CADD 23.10
- PolyPhen-2 0.07
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available