W26L (p.Trp26Leu) variant of SH2B3 (SH2B adapter protein 3)
W26L (p.Trp26Leu) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
W26L (p.Trp26Leu) variant details
- p.Trp26Leu
- gnomAD 12-111418222-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.78
- MetaLR 0.73
- MetaSVM 0.62
- CADD 29.40
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available