R57G (p.Arg57Gly) variant of NIPBL (Nipped-B-like protein)
R57G (p.Arg57Gly) 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 Inborn genetic diseases; Cornelia de Lange syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R57G (p.Arg57Gly) variant details
- p.Arg57Gly
- rs539552810
- ClinGen CA117021532
- ClinVar RCV002922090
- 1000Genomes rs539552810
- Uncertain significance
- Inborn genetic diseases; Cornelia de Lange syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.82
- ESM-1b 0.00
- AlphaMissense 0.81
- CADD 26.90
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Cornelia de Lange syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)