S9P (p.Ser9Pro) variant of SH2B3 (SH2B adapter protein 3)
S9P (p.Ser9Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
S9P (p.Ser9Pro) variant details
- p.Ser9Pro
- TOPMed rs1223479715
- gnomAD rs1223479715
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0876
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -1.02
- CADD 4.42
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available