E2D (p.Glu2Asp) variant of ERBB2 (P04626)
E2D (p.Glu2Asp) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- gnomAD 17-39700244-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.15
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available