G118A (p.Gly118Ala) variant of MECP2 (Methyl-CpG-binding protein 2)
G118A (p.Gly118Ala) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
G118A (p.Gly118Ala) variant details
- p.Gly118Ala
- rs1557137672
- ClinGen CA415176592
- ClinVar RCV000498617
- Ensembl rs1557137672
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available