R111T (p.Arg111Thr) variant of MECP2 (Methyl-CpG-binding protein 2)
R111T (p.Arg111Thr) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Severe neonatal-onset encephalopathy with microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R111T (p.Arg111Thr) variant details
- p.Arg111Thr
- rs1057518718
- ClinGen CA415176724
- ClinVar RCV003640345
- Likely pathogenic
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 0.96
- SIFT 0.02
- EVE 0.69
- ClinVar: Likely pathogenic (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Likely pathogenic (in RTT)
- UniProt: Likely pathogenic (in RTT)
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)