A21G (p.Ala21Gly) variant of SH2B3 (SH2B adapter protein 3)
A21G (p.Ala21Gly) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes structural context.
A21G (p.Ala21Gly) variant details
- p.Ala21Gly
- ExAC rs759666349
- gnomAD rs759666349
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.11
- MetaSVM -0.94
- SIFT 0.55
- Structural context available