R84Q (p.Arg84Gln) variant of MECP2 (Methyl-CpG-binding protein 2)
R84Q (p.Arg84Gln) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
R84Q (p.Arg84Gln) variant details
- p.Arg84Gln
- rs797044707
- ClinGen CA243342
- ClinVar RCV000177221
- Ensembl rs797044707
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- AlphaMissense 0.97
- MetaLR 0.87
- MetaSVM 0.87
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.63
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available