G69V (p.Gly69Val) variant of MECP2 (Methyl-CpG-binding protein 2)
G69V (p.Gly69Val) 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 Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G69V (p.Gly69Val) variant details
- p.Gly69Val
- rs1557137890
- ClinGen CA415177513
- ClinVar RCV001770566
- ClinVar RCV002540260
- Uncertain significance
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- AlphaMissense 0.09
- MetaLR 0.82
- MetaSVM 0.50
- PolyPhen-2 0.04
- SIFT 0.01
- EVE 0.25
- ClinVar: Uncertain significance (Rett syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.613
- 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)