W26C (p.Trp26Cys) variant of SH2B3 (SH2B adapter protein 3)
W26C (p.Trp26Cys) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
W26C (p.Trp26Cys) variant details
- p.Trp26Cys
- TOPMed rs1189359287
- gnomAD rs1189359287
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.86
- MetaLR 0.74
- MetaSVM 0.66
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available