K304R (p.Lys304Arg) variant of MECP2 (Methyl-CpG-binding protein 2)
K304R (p.Lys304Arg) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
K304R (p.Lys304Arg) variant details
- p.Lys304Arg
- rs267608550
- ClinGen CA170406
- NCI-TCGA Cosmic COSV5765
- cosmic curated COSV57652
- Pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- AlphaMissense 0.63
- MetaLR 0.84
- MetaSVM 0.74
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic (Rett syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)