S27C (p.Ser27Cys) variant of SH2B3 (SH2B adapter protein 3)
S27C (p.Ser27Cys) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S27C (p.Ser27Cys) variant details
- p.Ser27Cys
- gnomAD 12-111418224-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 26.00
- PolyPhen-2 0.94
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available