K135E (p.Lys135Glu) variant of MECP2 (Methyl-CpG-binding protein 2)
K135E (p.Lys135Glu) 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 0.91 / 1. The record also includes published literature and structural context.
K135E (p.Lys135Glu) variant details
- p.Lys135Glu
- rs61748391
- ClinGen CA270401
- ClinVar RCV000133097
- ClinVar RCV000424796
- Pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic (Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. (PMID 11241840)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)