A4R (p.Ala4Arg) variant of ERBB2 (P04626)
A4R (p.Ala4Arg) in ERBB2 (P04626) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A4R (p.Ala4Arg) variant details
- p.Ala4Arg
- gnomAD 17-39700246-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 29.20
- Population evidence available
- Structural context available
- Literature evidence available