S12Y (p.Ser12Tyr) variant of SH2B3 (SH2B adapter protein 3)
S12Y (p.Ser12Tyr) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S12Y (p.Ser12Tyr) variant details
- p.Ser12Tyr
- gnomAD 12-111418180-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.20
- CADD 16.30
- PolyPhen-2 0.28
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available