P101T (p.Pro101Thr) variant of MECP2 (Methyl-CpG-binding protein 2)
P101T (p.Pro101Thr) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
P101T (p.Pro101Thr) variant details
- p.Pro101Thr
- rs61754452
- ClinGen CA415176913
- ClinVar RCV001782431
- UniProt VAR 018185
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation… (PMID 10767337)
- Cited in: Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. (PMID 10508514)