D30E (p.Asp30Glu) variant of ERBB2 (P04626)
D30E (p.Asp30Glu) in ERBB2 (P04626) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
D30E (p.Asp30Glu) variant details
- p.Asp30Glu
- gnomAD rs2058483158
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.35
- CADD 18.20
- PolyPhen-2 0.13
- SIFT 0.35
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available