E14K (p.Glu14Lys) variant of MECP2 (Methyl-CpG-binding protein 2)
E14K (p.Glu14Lys) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- rs2065991940
- ClinGen CA415179104
- ClinVar RCV002274717
- TOPMed rs2065991940
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- AlphaMissense 0.36
- MetaLR 0.94
- MetaSVM 1.02
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.707