R8C (p.Arg8Cys) variant of ERBB2 (P04626)
R8C (p.Arg8Cys) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R8C (p.Arg8Cys) variant details
- p.Arg8Cys
- gnomAD rs2058006754
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.22
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available