V67A (p.Val67Ala) variant of ITGA2B (Integrin alpha-IIb)
V67A (p.Val67Ala) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
V67A (p.Val67Ala) variant details
- p.Val67Ala
- TOPMed rs1160717973
- gnomAD rs1160717973
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.76
- MetaLR 0.81
- MetaSVM 0.76
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.17
- Most common in the REMAINING population (allele frequency 6.7e-05)
- Structural context available