V20A (p.Val20Ala) variant of BCOR (BCL-6 corepressor)
V20A (p.Val20Ala) 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 0.41 / 1. The record also includes population frequency data and structural context.
V20A (p.Val20Ala) variant details
- p.Val20Ala
- rs2520275494
- ClinGen CA16621960
- ClinVar RCV002625212
- Uncertain significance
- Oculofaciocardiodental syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.28
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Oculofaciocardiodental syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available