A37T (p.Ala37Thr) variant of SH2B3 (SH2B adapter protein 3)
A37T (p.Ala37Thr) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A37T (p.Ala37Thr) variant details
- p.Ala37Thr
- gnomAD 12-111418254-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.10
- CADD 0.47
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available