Q7L (p.Gln7Leu) variant of SH2B3 (SH2B adapter protein 3)
Q7L (p.Gln7Leu) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
Q7L (p.Gln7Leu) variant details
- p.Gln7Leu
- ExAC rs753744013
- TOPMed rs753744013
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- ESM-1b 0.00
- AlphaMissense 0.11
- Structural context available