A29P (p.Ala29Pro) variant of ITGA2B (Integrin alpha-IIb)
A29P (p.Ala29Pro) 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.
A29P (p.Ala29Pro) variant details
- p.Ala29Pro
- ExAC rs766193715
- TOPMed rs766193715
- gnomAD rs766193715
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.55
- MetaLR 0.67
- MetaSVM -0.28
- CADD 18.00
- PolyPhen-2 0.28
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available