R72G (p.Arg72Gly) variant of ITGA2B (Integrin alpha-IIb)
R72G (p.Arg72Gly) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R72G (p.Arg72Gly) variant details
- p.Arg72Gly
- gnomAD rs1174805526
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.49
- MetaLR 0.51
- MetaSVM -0.17
- CADD 22.20
- PolyPhen-2 0.32
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available