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 0.22 / 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 0.217
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 15.90
- PolyPhen-2 0.09
- SIFT 0.03
- Most common in the Ashkenazi Jewish population (allele frequency 8.3e-05)
- Structural context available
- Literature evidence available