R34R (p.Arg34Arg) variant of ITGB3 (Integrin beta-3)
R34R (p.Arg34Arg) in ITGB3 (Integrin beta-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R34R (p.Arg34Arg) variant details
- p.Arg34Arg
- rs75427428
- gnomAD 17-47274439-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.288
- CADD 9.67
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Illegitimate transcription: its use for studying genetic abnormalities in lymphoblastoid cells from patients with… (PMID 9450787)