R19G (p.Arg19Gly) variant of PIK3R2 (O00459)
R19G (p.Arg19Gly) in PIK3R2 (O00459) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- ExAC rs779519249
- TOPMed rs779519249
- gnomAD rs779519249
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.11
- CADD 25.80
- PolyPhen-2 0.59
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available