G20R (p.Gly20Arg) variant of MECP2 (Methyl-CpG-binding protein 2)
G20R (p.Gly20Arg) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes experimental measurements and structural context.
G20R (p.Gly20Arg) variant details
- p.Gly20Arg
- rs1557138023
- ClinGen CA415178871
- ClinVar RCV000500533
- gnomAD rs1557138023
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- AlphaMissense 0.10
- MetaLR 0.85
- MetaSVM 0.52
- PolyPhen-2 0.01
- SIFT 0.06
- EVE 0.16
- ClinVar: Uncertain significance (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.0057