W104G (p.Trp104Gly) variant of MECP2 (Methyl-CpG-binding protein 2)
W104G (p.Trp104Gly) 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 MECP2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
W104G (p.Trp104Gly) variant details
- p.Trp104Gly
- rs267608451
- ClinGen CA415176868
- ClinVar RCV004528687
- Uncertain significance
- MECP2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Uncertain significance (MECP2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available