N29D (p.Asn29Asp) variant of ITGB3 (Integrin beta-3)
N29D (p.Asn29Asp) 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; Bleeding disorder, platelet-type, 24; Myocardial infarc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
N29D (p.Asn29Asp) variant details
- p.Asn29Asp
- rs967611155
- ClinGen CA291259004
- ClinVar RCV002864179
- ClinVar RCV005021708
- Uncertain significance
- Inborn genetic diseases; Bleeding disorder, platelet-type, 24; Myocardial infarc
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- MetaLR 0.07
- MetaSVM -1.05
- CADD 24.00
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Bleeding disorder, platelet-type, 24; M)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-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)