R72Q (p.Arg72Gln) variant of ITGA2B (Integrin alpha-IIb)
R72Q (p.Arg72Gln) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R72Q (p.Arg72Gln) variant details
- p.Arg72Gln
- TOPMed rs1435480247
- gnomAD rs1435480247
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.18
- MetaLR 0.47
- MetaSVM -0.43
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available