A126E (p.Ala126Glu) variant of ITGA2B (Integrin alpha-IIb)
A126E (p.Ala126Glu) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
A126E (p.Ala126Glu) variant details
- p.Ala126Glu
- gnomAD rs2048643896
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.80
- MetaLR 0.67
- MetaSVM 0.50
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available