Q19H (p.Gln19His) variant of MECP2 (Methyl-CpG-binding protein 2)
Q19H (p.Gln19His) 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 Severe neonatal-onset encephalopathy with microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes experimental measurements, published literature, and structural context.
Q19H (p.Gln19His) variant details
- p.Gln19His
- rs2148667234
- ClinGen CA415178887
- ClinVar RCV001883929
- Ensembl rs2148667234
- Uncertain significance
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- AlphaMissense 0.20
- MetaLR 0.89
- MetaSVM 0.93
- PolyPhen-2 0.99
- SIFT 0.03
- EVE 0.20
- ClinVar: Uncertain significance (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score 0.118
- Cited in: MECP2 Disorders. (PMID 20301670)