A4T (p.Ala4Thr) variant of ITGA2B (Integrin alpha-IIb)
A4T (p.Ala4Thr) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- rs537367984
- ClinVar RCV004577689
- ExAC rs537367984
- TOPMed rs537367984
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.23
- MetaLR 0.67
- MetaSVM 0.06
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0013)
- Structural context available