A21E (p.Ala21Glu) variant of ERBB2 (P04626)
A21E (p.Ala21Glu) in ERBB2 (P04626) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A21E (p.Ala21Glu) variant details
- p.Ala21Glu
- gnomAD 17-39700297-CCG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.363
- CADD 23.80
- Population evidence available
- Structural context available
- Literature evidence available