P11H (p.Pro11His) variant of SH2B3 (SH2B adapter protein 3)
P11H (p.Pro11His) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P11H (p.Pro11His) variant details
- p.Pro11His
- gnomAD 12-111418177-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.08
- ESM-1b 0.71
- AlphaMissense 0.12
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available