P4S (p.Pro4Ser) variant of SH2B3 (SH2B adapter protein 3)
P4S (p.Pro4Ser) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- gnomAD 12-111418155-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.10
- MetaLR 0.09
- MetaSVM -1.08
- CADD 11.90
- PolyPhen-2 0.03
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available