A137T (p.Ala137Thr) variant of ITGA2B (Integrin alpha-IIb)
A137T (p.Ala137Thr) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
A137T (p.Ala137Thr) variant details
- p.Ala137Thr
- TOPMed rs1046319092
- gnomAD rs1046319092
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.71
- MetaLR 0.57
- MetaSVM 0.25
- CADD 33.00
- PolyPhen-2 0.87
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available