S17R (p.Ser17Arg) variant of BCOR (BCL-6 corepressor)
S17R (p.Ser17Arg) 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 Inborn genetic diseases; Oculofaciocardiodental syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S17R (p.Ser17Arg) variant details
- p.Ser17Arg
- rs771428828
- ClinGen CA10387120
- ClinVar RCV001370349
- ClinVar RCV003169903
- Uncertain significance
- Inborn genetic diseases; Oculofaciocardiodental syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.23
- CADD 17.80
- PolyPhen-2 0.20
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Oculofaciocardiodental syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)