G125R (p.Gly125Arg) variant of ITGA2B (Integrin alpha-IIb)
G125R (p.Gly125Arg) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G125R (p.Gly125Arg) variant details
- p.Gly125Arg
- gnomAD rs1379677986
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.89
- MetaLR 0.84
- MetaSVM 0.87
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available