G3R (p.Gly3Arg) variant of SH2B3 (SH2B adapter protein 3)
G3R (p.Gly3Arg) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G3R (p.Gly3Arg) variant details
- p.Gly3Arg
- TOPMed rs1396230188
- gnomAD rs1396230188
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.30
- MetaLR 0.33
- MetaSVM -0.32
- CADD 24.40
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.05)
- Structural context available