P8R (p.Pro8Arg) variant of SH2B3 (SH2B adapter protein 3)
P8R (p.Pro8Arg) in SH2B3 (SH2B adapter protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes structural context.
P8R (p.Pro8Arg) variant details
- p.Pro8Arg
- TOPMed rs919771498
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.14
- MetaSVM -0.89
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available