Y50Q (p.Tyr50Gln) variant of ERBB3 (P21860)
Y50Q (p.Tyr50Gln) in ERBB3 (P21860) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Y50Q (p.Tyr50Gln) variant details
- p.Tyr50Gln
- rs764925612
- gnomAD 12-56083813-CTG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 25.50
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available