P302S (p.Pro302Ser) variant of MECP2 (Methyl-CpG-binding protein 2)
P302S (p.Pro302Ser) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Severe neonatal-onset encephalopathy with microcephaly; Rett syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
P302S (p.Pro302Ser) variant details
- p.Pro302Ser
- rs61751373
- ClinGen CA270567
- ClinVar RCV000133278
- ClinVar RCV001067586
- Pathogenic/Likely pathogenic
- not provided; Severe neonatal-onset encephalopathy with microcephaly; Rett syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 0.98
- MetaLR 0.91
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic/Likely pathogenic (not provided; Severe neonatal-onset encephalopathy with microcep)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- 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)