R39P (p.Arg39Pro) variant of SH2B3 (SH2B adapter protein 3)
R39P (p.Arg39Pro) in SH2B3 (SH2B adapter protein 3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R39P (p.Arg39Pro) variant details
- p.Arg39Pro
- ExAC rs778004604
- TOPMed rs778004604
- gnomAD rs778004604
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.24
- MetaLR 0.13
- MetaSVM -1.00
- CADD 24.90
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available