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 0.35 / 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 0.35
- REVEL 0.18
- MetaLR 0.11
- MetaSVM -1.00
- CADD 24.10
- PolyPhen-2 0.88
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available