R34Q (p.Arg34Gln) variant of ITGB3 (Integrin beta-3)
R34Q (p.Arg34Gln) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R34Q (p.Arg34Gln) variant details
- p.Arg34Gln
- rs765882558
- ClinGen CA400031621
- ClinVar RCV002885669
- ExAC rs765882558
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- MetaLR 0.05
- MetaSVM -1.05
- CADD 24.90
- PolyPhen-2 0.05
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available