H52Q (p.His52Gln) variant of MECP2 (Methyl-CpG-binding protein 2)
H52Q (p.His52Gln) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Severe neonatal-onset encephalopathy with microcephaly; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H52Q (p.His52Gln) variant details
- p.His52Gln
- rs781819534
- ClinGen CA10558653
- ClinVar RCV001480968
- ClinVar RCV001576872
- Likely benign
- Severe neonatal-onset encephalopathy with microcephaly; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.08
- MetaLR 0.63
- MetaSVM -0.15
- PolyPhen-2 0.00
- SIFT 0.45
- EVE 0.08
- ClinVar: Likely benign (Severe neonatal-onset encephalopathy with microcephaly; not prov)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.0017
- Cited in: MECP2 Disorders. (PMID 20301670)