R8W (p.Arg8Trp) variant of ERBB2 (P04626)
R8W (p.Arg8Trp) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- rs1193961962
- gnomAD 17-39699566-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 4.33
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available