A2D (p.Ala2Asp) variant of ITGA2B (Integrin alpha-IIb)
A2D (p.Ala2Asp) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- gnomAD rs1433509006
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.60
- MetaLR 0.76
- MetaSVM 0.57
- CADD 23.70
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available