A126S (p.Ala126Ser) variant of ITGA2B (Integrin alpha-IIb)
A126S (p.Ala126Ser) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
A126S (p.Ala126Ser) variant details
- p.Ala126Ser
- TOPMed rs1324511576
- gnomAD rs1324511576
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.71
- MetaLR 0.60
- MetaSVM 0.32
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 4.6e-05)
- Structural context available