E2V (p.Glu2Val) variant of ERBB2 (P04626)
E2V (p.Glu2Val) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E2V (p.Glu2Val) variant details
- p.Glu2Val
- Ensembl rs1379316719
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.41
- CADD 25.10
- PolyPhen-2 0.04
- SIFT 0.01
- Population evidence available
- Structural context available