A71D (p.Ala71Asp) variant of MECP2 (Methyl-CpG-binding protein 2)
A71D (p.Ala71Asp) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Severe neonatal-onset encephalopathy with microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A71D (p.Ala71Asp) variant details
- p.Ala71Asp
- rs1557137874
- ClinGen CA415177482
- ClinVar RCV002109086
- ClinVar RCV005375055
- Conflicting interpretations
- Inborn genetic diseases; Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- AlphaMissense 0.13
- MetaLR 0.85
- MetaSVM 0.60
- PolyPhen-2 0.00
- SIFT 0.05
- EVE 0.20
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Severe neonatal-onset encephalopathy wi)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.697
- 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)