N2S (p.Asn2Ser) variant of NIPBL (Nipped-B-like protein)
N2S (p.Asn2Ser) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
N2S (p.Asn2Ser) variant details
- p.Asn2Ser
- rs1458071910
- ClinGen CA359473447
- ClinVar RCV002904736
- TOPMed rs1458071910
- Uncertain significance
- Cornelia de Lange syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.89
- CADD 25.60
- PolyPhen-2 0.96
- SIFT 0.00
- 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 2.9e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)