A34T (p.Ala34Thr) variant of SH2B3 (SH2B adapter protein 3)
A34T (p.Ala34Thr) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- Ensembl rs2135547061
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.75
- MetaLR 0.57
- MetaSVM 0.29
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available