K82R (p.Lys82Arg) variant of MECP2 (Methyl-CpG-binding protein 2)
K82R (p.Lys82Arg) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
K82R (p.Lys82Arg) variant details
- p.Lys82Arg
- rs61754444
- ClinGen CA170278
- ClinVar RCV000133040
- ClinVar RCV000981151
- Pathogenic/Likely pathogenic
- Severe neonatal-onset encephalopathy with microcephaly; Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- AlphaMissense 0.17
- MetaLR 0.79
- MetaSVM 0.45
- PolyPhen-2 0.04
- SIFT 0.05
- EVE 0.18
- ClinVar: Pathogenic/Likely pathogenic (Severe neonatal-onset encephalopathy with microcephaly; Rett syn)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)