H52R (p.His52Arg) variant of MECP2 (Methyl-CpG-binding protein 2)
H52R (p.His52Arg) 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 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H52R (p.His52Arg) variant details
- p.His52Arg
- rs61754433
- ClinGen CA170263
- ClinVar RCV000133025
- ClinVar RCV001520931
- Benign
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- AlphaMissense 0.08
- MetaLR 0.71
- MetaSVM 0.11
- PolyPhen-2 0.00
- SIFT 0.04
- EVE 0.13
- ClinVar: Benign (Rett syndrome)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.0017
- 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)