G84S (p.Gly84Ser) variant of NIPBL (Nipped-B-like protein)
G84S (p.Gly84Ser) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G84S (p.Gly84Ser) variant details
- p.Gly84Ser
- rs369249480
- ClinGen CA3235770
- ClinVar RCV003072975
- ESP rs369249480
- Uncertain significance
- Cornelia de Lange syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.84
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.10
- 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 4.4e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)