S86C (p.Ser86Cys) variant of MECP2 (Methyl-CpG-binding protein 2)
S86C (p.Ser86Cys) 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 0.78 / 1. The record also includes published literature and structural context.
S86C (p.Ser86Cys) variant details
- p.Ser86Cys
- rs61754445
- ClinGen CA270305
- ClinVar RCV000133041
- UniProt VAR 018181
- Uncertain significance
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- AlphaMissense 0.95
- MetaLR 0.88
- MetaSVM 0.97
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.63
- ClinVar: Uncertain significance (Rett syndrome)
- EBI: Variant of uncertain significance (in dbSNP:rs61754445)
- UniProt: Uncertain significance (in dbSNP:rs61754445)
- Structural context available
- Cited in: Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of… (PMID 11055898)
- Cited in: MECP2 Disorders. (PMID 20301670)