A38G (p.Ala38Gly) variant of SH2B3 (SH2B adapter protein 3)
A38G (p.Ala38Gly) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
A38G (p.Ala38Gly) variant details
- p.Ala38Gly
- Ensembl rs2135547124
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.60
- MetaLR 0.43
- MetaSVM -0.03
- SIFT 0.00
- Structural context available