R39Q (p.Arg39Gln) variant of SH2B3 (SH2B adapter protein 3)
R39Q (p.Arg39Gln) in SH2B3 (SH2B adapter protein 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 0.30 / 1. The record also includes population frequency data and structural context.
R39Q (p.Arg39Gln) variant details
- p.Arg39Gln
- rs778004604
- NCI-TCGA Cosmic COSV5798
- ExAC rs778004604
- TOPMed rs778004604
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.10
- MetaLR 0.10
- MetaSVM -1.09
- CADD 23.40
- PolyPhen-2 0.77
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available