A21E (p.Ala21Glu) variant of SH2B3 (SH2B adapter protein 3)
A21E (p.Ala21Glu) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A21E (p.Ala21Glu) variant details
- p.Ala21Glu
- gnomAD 12-111418207-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -0.91
- CADD 13.80
- PolyPhen-2 0.93
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available