S9Y (p.Ser9Tyr) variant of SH2B3 (SH2B adapter protein 3)
S9Y (p.Ser9Tyr) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S9Y (p.Ser9Tyr) variant details
- p.Ser9Tyr
- gnomAD 12-111418171-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.06
- ESM-1b 1.00
- AlphaMissense 0.20
- CADD 16.10
- PolyPhen-2 0.37
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available