P19T (p.Pro19Thr) variant of SH2B3 (SH2B adapter protein 3)
P19T (p.Pro19Thr) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
P19T (p.Pro19Thr) variant details
- p.Pro19Thr
- gnomAD 12-111418200-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0675
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available