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 0.53 / 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 0.528
- REVEL 0.46
- MetaLR 0.20
- MetaSVM -0.80
- CADD 23.40
- PolyPhen-2 0.27
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available