V55M (p.Val55Met) variant of BCOR (BCL-6 corepressor)
V55M (p.Val55Met) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V55M (p.Val55Met) variant details
- p.Val55Met
- rs142564611
- ClinGen CA10387090
- ClinVar RCV001699932
- ESP rs142564611
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.24
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.33
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.7e-05)
- Structural context available