P8T (p.Pro8Thr) variant of SH2B3 (SH2B adapter protein 3)
P8T (p.Pro8Thr) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P8T (p.Pro8Thr) variant details
- p.Pro8Thr
- gnomAD 12-111418167-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.09
- MetaLR 0.11
- MetaSVM -1.01
- CADD 13.80
- PolyPhen-2 0.19
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available