P25S (p.Pro25Ser) variant of MECP2 (Methyl-CpG-binding protein 2)
P25S (p.Pro25Ser) 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 0.55 / 1. The record also includes experimental measurements and structural context.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- rs1275570991
- ClinGen CA415178714
- ClinVar RCV001769336
- TOPMed rs1275570991
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- AlphaMissense 0.08
- MetaLR 0.82
- MetaSVM 0.59
- PolyPhen-2 0.13
- SIFT 0.01
- EVE 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.323