S18Y (p.Ser18Tyr) variant of SH2B3 (SH2B adapter protein 3)
S18Y (p.Ser18Tyr) 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 0.24 / 1. The record also includes population frequency data and structural context.
S18Y (p.Ser18Tyr) variant details
- p.Ser18Tyr
- TOPMed rs1382306616
- gnomAD rs1382306616
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -0.97
- CADD 16.60
- PolyPhen-2 0.14
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available