S9T (p.Ser9Thr) variant of SH2B3 (SH2B adapter protein 3)
S9T (p.Ser9Thr) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
S9T (p.Ser9Thr) variant details
- p.Ser9Thr
- gnomAD 12-111418170-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0645
- REVEL 0.01
- MetaLR 0.06
- MetaSVM -1.05
- CADD 0.63
- PolyPhen-2 0.03
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available