S70P (p.Ser70Pro) variant of MECP2 (Methyl-CpG-binding protein 2)
S70P (p.Ser70Pro) 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 Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes experimental measurements, published literature, and structural context.
S70P (p.Ser70Pro) variant details
- p.Ser70Pro
- rs1557137884
- ClinGen CA415177504
- ClinVar RCV000678236
- ClinVar RCV003638701
- Uncertain significance
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- AlphaMissense 0.12
- MetaLR 0.76
- MetaSVM 0.12
- PolyPhen-2 0.00
- SIFT 0.01
- EVE 0.12
- ClinVar: Uncertain significance (Rett syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score 0.252
- Cited in: MECP2 Disorders. (PMID 20301670)