N46S (p.Asn46Ser) variant of ITGA2B (Integrin alpha-IIb)
N46S (p.Asn46Ser) 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 Inborn genetic diseases; Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
N46S (p.Asn46Ser) variant details
- p.Asn46Ser
- rs754869105
- ClinGen CA8603534
- ClinVar RCV002684294
- ClinVar RCV005099055
- Uncertain significance
- Inborn genetic diseases; Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.21
- MetaLR 0.36
- MetaSVM -0.54
- CADD 18.70
- PolyPhen-2 0.06
- SIFT 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases; Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 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)