D35G (p.Asp35Gly) variant of ITGA2B (Integrin alpha-IIb)
D35G (p.Asp35Gly) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
D35G (p.Asp35Gly) variant details
- p.Asp35Gly
- 1000Genomes rs549088938
- ExAC rs549088938
- gnomAD rs549088938
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.74
- MetaLR 0.82
- MetaSVM 0.84
- CADD 26.50
- PolyPhen-2 0.79
- SIFT 0.02
- Most common in the 1KG:GIH population (allele frequency 0.01)
- Structural context available