S13G (p.Ser13Gly) variant of BCOR (BCL-6 corepressor)
S13G (p.Ser13Gly) in BCOR (BCL-6 corepressor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Oculofaciocardiodental syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
S13G (p.Ser13Gly) variant details
- p.Ser13Gly
- rs1935888587
- ClinGen CA412749680
- ClinVar RCV001204867
- ClinVar RCV003442765
- Uncertain significance
- Oculofaciocardiodental syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- AlphaMissense 0.18
- MetaLR 0.19
- MetaSVM -0.79
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.50
- ClinVar: Uncertain significance (Oculofaciocardiodental syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available