Q24Q (p.Gln24Gln) variant of ERBB2 (P04626)
Q24Q (p.Gln24Gln) in ERBB2 (P04626) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
Q24Q (p.Gln24Gln) variant details
- p.Gln24Gln
- rs1179865297
- gnomAD 17-39699586-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.123
- CADD 6.03
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available