T99P (p.Thr99Pro) variant of MECP2 (Methyl-CpG-binding protein 2)
T99P (p.Thr99Pro) 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 Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
T99P (p.Thr99Pro) variant details
- p.Thr99Pro
- rs2065984609
- ClinGen CA415176953
- ClinVar RCV001065758
- ClinVar RCV001507069
- Uncertain significance
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.12
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.27
- ClinVar: Uncertain significance (Rett syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)