R16G (p.Arg16Gly) variant of PIK3R2 (O00459)
R16G (p.Arg16Gly) in PIK3R2 (O00459) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Megalencephaly-polymicrogyria-postaxial polydactyly-hyd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R16G (p.Arg16Gly) variant details
- p.Arg16Gly
- rs80233027
- ClinGen CA306163886
- ClinVar RCV004953613
- ClinVar RCV006564200
- Uncertain significance
- Inborn genetic diseases; Megalencephaly-polymicrogyria-postaxial polydactyly-hyd
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.08
- CADD 23.10
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; Megalencephaly-polymicrogyria-postaxial)
- EBI: Benign
- UniProt: 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)