R63K (p.Arg63Lys) variant of BCOR (BCL-6 corepressor)
R63K (p.Arg63Lys) in BCOR (BCL-6 corepressor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; 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.
R63K (p.Arg63Lys) variant details
- p.Arg63Lys
- rs751977474
- ClinGen CA10387077
- cosmic curated COSV60700
- ClinVar RCV001514826
- Benign
- not provided; Oculofaciocardiodental syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.25
- CADD 23.00
- PolyPhen-2 0.98
- SIFT 0.06
- ClinVar: Benign (not provided; Oculofaciocardiodental syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- Structural context available