M22L (p.Met22Leu) variant of BCOR (BCL-6 corepressor)
M22L (p.Met22Leu) in BCOR (BCL-6 corepressor) is a missense change. Clinical records from ClinVar 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 0.35 / 1. The record also includes population frequency data and structural context.
M22L (p.Met22Leu) variant details
- p.Met22Leu
- ESP rs377693413
- ExAC rs377693413
- TOPMed rs377693413
- gnomAD rs377693413
- Uncertain significance
- Oculofaciocardiodental syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.23
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Oculofaciocardiodental syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.5e-05)
- Structural context available