K305R (p.Lys305Arg) variant of MECP2 (Methyl-CpG-binding protein 2)
K305R (p.Lys305Arg) 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; Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
K305R (p.Lys305Arg) variant details
- p.Lys305Arg
- rs61751441
- ClinGen CA270586
- ClinVar RCV000133289
- ClinVar RCV002515934
- Pathogenic/Likely pathogenic
- Severe neonatal-onset encephalopathy with microcephaly; Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- AlphaMissense 0.81
- MetaLR 0.76
- MetaSVM 0.65
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic/Likely pathogenic (Severe neonatal-onset encephalopathy with microcephaly; Rett syn)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of… (PMID 11055898)
- Cited in: MeCP2 mutations in children with and without the phenotype of Rett syndrome. (PMID 11402105)