S80C (p.Ser80Cys) variant of MECP2 (Methyl-CpG-binding protein 2)
S80C (p.Ser80Cys) 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 0.72 / 1. The record also includes structural context.
S80C (p.Ser80Cys) variant details
- p.Ser80Cys
- rs1332969540
- ClinGen CA415177339
- ClinVar RCV000678234
- TOPMed rs1332969540
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- AlphaMissense 0.54
- MetaLR 0.84
- MetaSVM 0.79
- PolyPhen-2 0.50
- SIFT 0.01
- EVE 0.60
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available