K109E (p.Lys109Glu) variant of MECP2 (Methyl-CpG-binding protein 2)
K109E (p.Lys109Glu) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
K109E (p.Lys109Glu) variant details
- p.Lys109Glu
- rs886041732
- ClinGen CA10603536
- ClinVar RCV000314570
- Ensembl rs886041732
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 0.94
- SIFT 0.01
- EVE 0.67
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available