V67E (p.Val67Glu) variant of ITGA2B (Integrin alpha-IIb)
V67E (p.Val67Glu) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
V67E (p.Val67Glu) variant details
- p.Val67Glu
- TOPMed rs1160717973
- gnomAD rs1160717973
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.84
- MetaLR 0.81
- MetaSVM 0.77
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available