G67V (p.Gly67Val) variant of MECP2 (Methyl-CpG-binding protein 2)
G67V (p.Gly67Val) 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 Inborn genetic diseases; Severe neonatal-onset encephalopathy with microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G67V (p.Gly67Val) variant details
- p.Gly67Val
- rs150900180
- ClinGen CA337265756
- ClinVar RCV001196929
- ClinVar RCV002559252
- Uncertain significance
- Inborn genetic diseases; Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- AlphaMissense 0.08
- MetaLR 0.78
- MetaSVM 0.30
- PolyPhen-2 0.18
- SIFT 0.03
- EVE 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases; Severe neonatal-onset encephalopathy wi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.967
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)