G25D (p.Gly25Asp) variant of SH2B3 (SH2B adapter protein 3)
G25D (p.Gly25Asp) 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 0.37 / 1. The record also includes population frequency data and structural context.
G25D (p.Gly25Asp) variant details
- p.Gly25Asp
- TOPMed rs1871226981
- gnomAD rs1871226981
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.26
- MetaLR 0.11
- MetaSVM -1.06
- CADD 25.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available