R45Q (p.Arg45Gln) variant of NIPBL (Nipped-B-like protein)
R45Q (p.Arg45Gln) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R45Q (p.Arg45Gln) variant details
- p.Arg45Gln
- rs1290230112
- ClinGen CA359474063
- NCI-TCGA Cosmic COSV5694
- cosmic curated COSV56949
- Uncertain significance
- Cornelia de Lange syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.74
- ESM-1b 0.00
- AlphaMissense 0.28
- CADD 29.60
- PolyPhen-2 0.97
- SIFT 0.02
- 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 1.5e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)