R6Q (p.Arg6Gln) variant of ITGB3 (Integrin beta-3)
R6Q (p.Arg6Gln) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R6Q (p.Arg6Gln) variant details
- p.Arg6Gln
- rs762907751
- ClinGen CA400028247
- ClinVar RCV003207851
- ClinVar RCV003720792
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- MetaLR 0.04
- MetaSVM -1.05
- CADD 7.99
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- 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)