A14Q (p.Ala14Gln) variant of SH2B3 (SH2B adapter protein 3)
A14Q (p.Ala14Gln) in SH2B3 (SH2B adapter protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A14Q (p.Ala14Gln) variant details
- p.Ala14Gln
- gnomAD 12-111418165-A-AG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.591
- CADD 22.90
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available