R39G (p.Arg39Gly) variant of SH2B3 (SH2B adapter protein 3)
R39G (p.Arg39Gly) in SH2B3 (SH2B adapter protein 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R39G (p.Arg39Gly) variant details
- p.Arg39Gly
- TOPMed rs933970612
- gnomAD rs933970612
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.21
- MetaLR 0.12
- MetaSVM -1.01
- CADD 23.90
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available