V46M (p.Val46Met) variant of MECP2 (Methyl-CpG-binding protein 2)
V46M (p.Val46Met) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not provided; Severe neonatal-onset encephalopathy with. 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.
V46M (p.Val46Met) variant details
- p.Val46Met
- rs587783134
- ClinGen CA294698
- ClinVar RCV000144806
- ClinVar RCV002055865
- Benign/Likely benign
- Inborn genetic diseases; not provided; Severe neonatal-onset encephalopathy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- AlphaMissense 0.09
- MetaLR 0.72
- MetaSVM -0.02
- PolyPhen-2 0.18
- SIFT 0.09
- EVE 0.13
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not provided; Severe neonatal-onset enc)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score 0.253
- 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)