S12F (p.Ser12Phe) variant of SH2B3 (SH2B adapter protein 3)
S12F (p.Ser12Phe) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S12F (p.Ser12Phe) variant details
- p.Ser12Phe
- TOPMed rs1261307883
- gnomAD rs1261307883
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.06
- ESM-1b 0.91
- AlphaMissense 0.15
- MetaLR 0.07
- MetaSVM -1.08
- CADD 17.50
- Most common in the Latino/Admixed American population (allele frequency 7.8e-05)
- Structural context available