H14Q (p.His14Gln) variant of PIK3CA (P42336)
H14Q (p.His14Gln) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
H14Q (p.His14Gln) variant details
- p.His14Gln
- rs766833890
- ExAC rs766833890
- TOPMed rs766833890
- gnomAD rs766833890
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.46
- MetaLR 0.33
- MetaSVM -0.47
- CADD 22.70
- PolyPhen-2 0.73
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)