S27I (p.Ser27Ile) variant of SH2B3 (SH2B adapter protein 3)
S27I (p.Ser27Ile) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S27I (p.Ser27Ile) variant details
- p.Ser27Ile
- gnomAD 12-111418225-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.18
- ESM-1b 0.95
- AlphaMissense 0.42
- CADD 24.10
- PolyPhen-2 0.88
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available