V22I (p.Val22Ile) variant of PIK3CA (P42336)
V22I (p.Val22Ile) in PIK3CA (P42336) 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 0.46 / 1. The record also includes population frequency data and structural context.
V22I (p.Val22Ile) variant details
- p.Val22Ile
- ExAC rs748316866
- TOPMed rs748316866
- gnomAD rs748316866
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.24
- CADD 23.70
- PolyPhen-2 0.44
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available