R8Q (p.Arg8Gln) variant of ERBB2 (P04626)
R8Q (p.Arg8Gln) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- rs966070730
- gnomAD 17-39699567-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- CADD 2.95
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available