R306P (p.Arg306Pro) variant of MECP2 (Methyl-CpG-binding protein 2)
R306P (p.Arg306Pro) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Severe neonatal-onset encephalopathy with microcephaly; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R306P (p.Arg306Pro) variant details
- p.Arg306Pro
- rs61751443
- ClinGen CA415168992
- ClinVar RCV000623502
- ClinVar RCV002531911
- Pathogenic/Likely pathogenic
- Severe neonatal-onset encephalopathy with microcephaly; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.54
- AlphaMissense 0.25
- MetaLR 0.47
- MetaSVM -0.18
- CADD 21.70
- PolyPhen-2 0.97
- ClinVar: Pathogenic/Likely pathogenic (Severe neonatal-onset encephalopathy with microcephaly; Inborn g)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Most common in the South Asian population (allele frequency 1.8e-05)
- 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)