P19R (p.Pro19Arg) variant of SH2B3 (SH2B adapter protein 3)
P19R (p.Pro19Arg) 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 0.18 / 1. The record also includes population frequency data and structural context.
P19R (p.Pro19Arg) variant details
- p.Pro19Arg
- 1000Genomes rs778291950
- ExAC rs778291950
- gnomAD rs778291950
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.03
- MetaLR 0.08
- MetaSVM -1.02
- CADD 9.46
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available