R85H (p.Arg85His) variant of MECP2 (Methyl-CpG-binding protein 2)
R85H (p.Arg85His) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R85H (p.Arg85His) variant details
- p.Arg85His
- rs782226571
- ClinGen CA10558645
- cosmic curated COSV57651
- ClinVar RCV001047333
- Uncertain significance
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- AlphaMissense 0.96
- MetaLR 0.84
- MetaSVM 0.85
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.69
- ClinVar: Uncertain significance (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)