K304Q (p.Lys304Gln) variant of MECP2 (Methyl-CpG-binding protein 2)
K304Q (p.Lys304Gln) 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 not provided; Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
K304Q (p.Lys304Gln) variant details
- p.Lys304Gln
- rs61751440
- ClinGen CA16621245
- ClinVar RCV000482101
- ClinVar RCV005869487
- Pathogenic/Likely pathogenic
- not provided; Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.89
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic/Likely pathogenic (not provided; 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)