C7R (p.Cys7Arg) variant of ERBB2 (P04626)
C7R (p.Cys7Arg) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
C7R (p.Cys7Arg) variant details
- p.Cys7Arg
- gnomAD 17-39700257-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.34
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available