P23R (p.Pro23Arg) variant of SH2B3 (SH2B adapter protein 3)
P23R (p.Pro23Arg) in SH2B3 (SH2B adapter protein 3) is a missense change. Clinical records from ClinVar 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 0.27 / 1. The record also includes population frequency data and structural context.
P23R (p.Pro23Arg) variant details
- p.Pro23Arg
- ExAC rs760472328
- TOPMed rs760472328
- gnomAD rs760472328
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.08
- MetaLR 0.14
- MetaSVM -0.84
- CADD 22.50
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0014)
- Structural context available