R19K (p.Arg19Lys) variant of PIK3CG (P48736)
R19K (p.Arg19Lys) in PIK3CG (P48736) 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 population frequency data, published literature, and structural context.
R19K (p.Arg19Lys) variant details
- p.Arg19Lys
- rs767132637
- ClinGen CA4429071
- ClinVar RCV002752136
- ExAC rs767132637
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.24
- MetaLR 0.46
- MetaSVM -0.24
- CADD 23.40
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)