A31T (p.Ala31Thr) variant of ITGA2B (Integrin alpha-IIb)
A31T (p.Ala31Thr) 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 0.68 / 1. The record also includes population frequency data and structural context.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- rs1005880342
- ClinGen CA290958506
- ClinVar RCV003879605
- Ensembl rs1005880342
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.68
- MetaLR 0.82
- MetaSVM 0.78
- CADD 23.40
- PolyPhen-2 0.68
- SIFT 0.21
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available