A139P (p.Ala139Pro) variant of ITGA2B (Integrin alpha-IIb)
A139P (p.Ala139Pro) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
A139P (p.Ala139Pro) variant details
- p.Ala139Pro
- TOPMed rs1318135933
- gnomAD rs1318135933
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.80
- MetaLR 0.64
- MetaSVM 0.47
- CADD 31.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available