D314A (p.Asp314Ala) variant of ITGB3 (Integrin beta-3)
D314A (p.Asp314Ala) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
D314A (p.Asp314Ala) variant details
- p.Asp314Ala
- rs2065117736
- ClinGen CA400025615
- ClinVar RCV001290453
- ClinVar RCV005652586
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- MetaLR 0.94
- MetaSVM 1.09
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-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)