R16C (p.Arg16Cys) variant of PIK3R2 (O00459)
R16C (p.Arg16Cys) in PIK3R2 (O00459) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; Inbo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R16C (p.Arg16Cys) variant details
- p.Arg16Cys
- rs80233027
- ClinGen CA9306634
- ClinVar RCV002562292
- ClinVar RCV006469166
- Conflicting interpretations
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; Inbo
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.08
- CADD 24.00
- PolyPhen-2 0.33
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalu)
- 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)