S9A (p.Ser9Ala) variant of SH2B3 (SH2B adapter protein 3)
S9A (p.Ser9Ala) 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 0.07 / 1. The record also includes population frequency data and structural context.
S9A (p.Ser9Ala) variant details
- p.Ser9Ala
- TOPMed rs1223479715
- gnomAD rs1223479715
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0708
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.04
- CADD 0.43
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available