R4L (p.Arg4Leu) variant of PIK3CA (P42336)
R4L (p.Arg4Leu) in PIK3CA (P42336) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R4L (p.Arg4Leu) variant details
- p.Arg4Leu
- ExAC rs749956691
- TOPMed rs749956691
- gnomAD rs749956691
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.46
- CADD 23.40
- PolyPhen-2 0.27
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available