C24Y (p.Cys24Tyr) variant of ITGA2B (Integrin alpha-IIb)
C24Y (p.Cys24Tyr) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
C24Y (p.Cys24Tyr) variant details
- p.Cys24Tyr
- ExAC rs754744441
- TOPMed rs754744441
- gnomAD rs754744441
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.17
- MetaLR 0.43
- MetaSVM -0.57
- CADD 4.88
- PolyPhen-2 0.09
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available