R306L (p.Arg306Leu) variant of MECP2 (Methyl-CpG-binding protein 2)
R306L (p.Arg306Leu) 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 Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
R306L (p.Arg306Leu) variant details
- p.Arg306Leu
- rs61751443
- ClinGen CA233016
- ClinVar RCV000133291
- ClinVar RCV001420142
- Pathogenic/Likely pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- AlphaMissense 0.99
- MetaLR 0.81
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic/Likely pathogenic (Rett syndrome)
- 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)