A153T (p.Ala153Thr) variant of ITGA2B (Integrin alpha-IIb)
A153T (p.Ala153Thr) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A153T (p.Ala153Thr) variant details
- p.Ala153Thr
- rs199641871
- ClinGen CA8603459
- ClinVar RCV000784902
- ClinVar RCV002535708
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.46
- MetaLR 0.71
- MetaSVM 0.48
- CADD 24.90
- PolyPhen-2 0.96
- SIFT 0.03
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)