R108Q (p.Arg108Gln) variant of ITGA2B (Integrin alpha-IIb)
R108Q (p.Arg108Gln) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R108Q (p.Arg108Gln) variant details
- p.Arg108Gln
- gnomAD rs1425022869
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.18
- MetaLR 0.46
- MetaSVM -0.56
- CADD 17.40
- PolyPhen-2 0.03
- SIFT 0.47
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available