E31D (p.Glu31Asp) variant of SH2B3 (SH2B adapter protein 3)
E31D (p.Glu31Asp) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E31D (p.Glu31Asp) variant details
- p.Glu31Asp
- TOPMed rs1871229645
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.31
- MetaSVM -0.49
- CADD 22.90
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available