P19Q (p.Pro19Gln) variant of SH2B3 (SH2B adapter protein 3)
P19Q (p.Pro19Gln) 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 0.21 / 1. The record also includes population frequency data and structural context.
P19Q (p.Pro19Gln) variant details
- p.Pro19Gln
- 1000Genomes rs778291950
- ExAC rs778291950
- gnomAD rs778291950
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.03
- ESM-1b 0.57
- AlphaMissense 0.11
- MetaLR 0.07
- MetaSVM -1.06
- CADD 9.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available