E31G (p.Glu31Gly) variant of SH2B3 (SH2B adapter protein 3)
E31G (p.Glu31Gly) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E31G (p.Glu31Gly) variant details
- p.Glu31Gly
- Ensembl rs2135546995
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.69
- MetaLR 0.36
- MetaSVM -0.26
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available