C49Y (p.Cys49Tyr) variant of CD276 (CD276 antigen)
C49Y (p.Cys49Tyr) in CD276 (CD276 antigen) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
C49Y (p.Cys49Tyr) variant details
- p.Cys49Tyr
- 1000Genomes rs556248715
- ExAC rs556248715
- TOPMed rs556248715
- gnomAD rs556248715
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.10
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available