Q19P (p.Gln19Pro) variant of MECP2 (Methyl-CpG-binding protein 2)
Q19P (p.Gln19Pro) 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 0.62 / 1. The record also includes experimental measurements, published literature, and structural context.
Q19P (p.Gln19Pro) variant details
- p.Gln19Pro
- rs2148667246
- ClinGen CA415178909
- ClinVar RCV001872798
- Ensembl rs2148667246
- Uncertain significance
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- AlphaMissense 0.10
- MetaLR 0.90
- MetaSVM 0.99
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.18
- 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)