G3V (p.Gly3Val) variant of SH2B3 (SH2B adapter protein 3)
G3V (p.Gly3Val) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G3V (p.Gly3Val) variant details
- p.Gly3Val
- gnomAD 12-111418153-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.30
- ESM-1b 0.42
- AlphaMissense 0.30
- CADD 23.30
- PolyPhen-2 0.83
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available