C56R (p.Cys56Arg) variant of NIPBL (Nipped-B-like protein)
C56R (p.Cys56Arg) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cornelia de Lange syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
C56R (p.Cys56Arg) variant details
- p.Cys56Arg
- gnomAD rs1451376095
- Uncertain significance
- Cornelia de Lange syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.78
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available