E2K (p.Glu2Lys) variant of ERBB2 (P04626)
E2K (p.Glu2Lys) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- Ensembl rs2145266957
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.28
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available