P11T (p.Pro11Thr) variant of SH2B3 (SH2B adapter protein 3)
P11T (p.Pro11Thr) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P11T (p.Pro11Thr) variant details
- p.Pro11Thr
- gnomAD 12-111418176-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0824
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -1.02
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available