R89C (p.Arg89Cys) variant of MECP2 (Methyl-CpG-binding protein 2)
R89C (p.Arg89Cys) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R89C (p.Arg89Cys) variant details
- p.Arg89Cys
- rs782601477
- ClinGen CA10558644
- ClinVar RCV001561656
- ClinVar RCV002318251
- Benign
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Benign (Rett syndrome)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)