A14E (p.Ala14Glu) variant of SH2B3 (SH2B adapter protein 3)
A14E (p.Ala14Glu) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A14E (p.Ala14Glu) variant details
- p.Ala14Glu
- gnomAD 12-111418186-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.08
- MetaLR 0.09
- MetaSVM -1.00
- CADD 15.90
- PolyPhen-2 0.09
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available