A69V (p.Ala69Val) variant of BCOR (BCL-6 corepressor)
A69V (p.Ala69Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A69V (p.Ala69Val) variant details
- p.Ala69Val
- rs1935736276
- ClinGen CA412749221
- ClinVar RCV003148222
- TOPMed rs1935736276
- Uncertain significance
- Oculofaciocardiodental syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- AlphaMissense 0.23
- MetaLR 0.32
- MetaSVM -0.34
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.17
- ClinVar: Uncertain significance (Oculofaciocardiodental syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available