D22N (p.Asp22Asn) variant of PIK3R2 (O00459)
D22N (p.Asp22Asn) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
D22N (p.Asp22Asn) variant details
- p.Asp22Asn
- TOPMed rs1427473626
- gnomAD rs1427473626
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.30
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available