C6Y (p.Cys6Tyr) variant of ITGA2B (Integrin alpha-IIb)
C6Y (p.Cys6Tyr) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
C6Y (p.Cys6Tyr) variant details
- p.Cys6Tyr
- ExAC rs769136077
- TOPMed rs769136077
- gnomAD rs769136077
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.19
- MetaLR 0.65
- MetaSVM -0.12
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 0.00016)
- Structural context available