C56R (p.Cys56Arg) variant of ERBB3 (P21860)
C56R (p.Cys56Arg) in ERBB3 (P21860) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
C56R (p.Cys56Arg) variant details
- p.Cys56Arg
- gnomAD 12-56083834-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.95
- MetaLR 0.99
- MetaSVM 0.94
- CADD 28.80
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available