L15W (p.Leu15Trp) variant of PIK3CA (P42336)
L15W (p.Leu15Trp) 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 0.45 / 1. The record also includes published literature and structural context.
L15W (p.Leu15Trp) variant details
- p.Leu15Trp
- rs2108385120
- ClinGen CA355270524
- ClinVar RCV002328697
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- AlphaMissense 0.77
- MetaLR 0.37
- MetaSVM -0.52
- PolyPhen-2 1.00
- SIFT 0.70
- MutPred 0.34
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)