C30Y (p.Cys30Tyr) variant of SH2B3 (SH2B adapter protein 3)
C30Y (p.Cys30Tyr) 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 Familial myelofibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
C30Y (p.Cys30Tyr) variant details
- p.Cys30Tyr
- rs1871229237
- ClinGen CA386717841
- ClinVar RCV003120366
- TOPMed rs1871229237
- Uncertain significance
- Familial myelofibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.89
- MetaLR 0.71
- MetaSVM 0.58
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial myelofibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available