R2Q (p.Arg2Gln) variant of ITGB3 (Integrin beta-3)
R2Q (p.Arg2Gln) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R2Q (p.Arg2Gln) variant details
- p.Arg2Gln
- TOPMed rs1343433641
- gnomAD rs1343433641
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- MetaLR 0.09
- MetaSVM -1.03
- CADD 21.70
- PolyPhen-2 0.08
- SIFT 0.59
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available