G111V (p.Gly111Val) variant of ITGA2B (Integrin alpha-IIb)
G111V (p.Gly111Val) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G111V (p.Gly111Val) variant details
- p.Gly111Val
- TOPMed rs1378357391
- gnomAD rs1378357391
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.39
- MetaLR 0.67
- MetaSVM 0.33
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available