T40I (p.Thr40Ile) variant of ITGA2B (Integrin alpha-IIb)
T40I (p.Thr40Ile) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
T40I (p.Thr40Ile) variant details
- p.Thr40Ile
- rs5915
- UniProt VAR 014176
- 1000Genomes rs5915
- ESP rs5915
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.42
- MetaLR 0.76
- MetaSVM 0.64
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- UniProt: Uncertain significance (in dbSNP:rs5915)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)