A12E (p.Ala12Glu) variant of ITGB3 (Integrin beta-3)
A12E (p.Ala12Glu) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A12E (p.Ala12Glu) variant details
- p.Ala12Glu
- rs1051430
- ClinGen CA400028311
- ClinVar RCV003175960
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- MetaLR 0.04
- MetaSVM -0.99
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.1e-06)
- 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)