T40A (p.Thr40Ala) variant of ITGA2B (Integrin alpha-IIb)
T40A (p.Thr40Ala) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T40A (p.Thr40Ala) variant details
- p.Thr40Ala
- rs77120952
- ClinGen CA8603540
- ClinVar RCV001752051
- ClinVar RCV002539921
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.23
- MetaLR 0.41
- MetaSVM -0.49
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.09
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance (in dbSNP:rs5915)
- UniProt: Uncertain significance (in dbSNP:rs5915)
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)