T114I (p.Thr114Ile) variant of ITGA2B (Integrin alpha-IIb)
T114I (p.Thr114Ile) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
T114I (p.Thr114Ile) variant details
- p.Thr114Ile
- Ensembl rs2048644314
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.16
- MetaLR 0.50
- MetaSVM -0.56
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available