G83D (p.Gly83Asp) variant of ITGA2B (Integrin alpha-IIb)
G83D (p.Gly83Asp) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
G83D (p.Gly83Asp) variant details
- p.Gly83Asp
- rs2048646352
- ClinGen CA399806421
- ClinVar RCV002574500
- ClinVar RCV002581708
- Uncertain significance
- Glanzmann thrombasthenia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.68
- MetaLR 0.70
- MetaSVM 0.39
- CADD 23.40
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Glanzmann thrombasthenia; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)