N70S (p.Asn70Ser) variant of NIPBL (Nipped-B-like protein)
N70S (p.Asn70Ser) 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 not provided; Cornelia de Lange syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
N70S (p.Asn70Ser) variant details
- p.Asn70Ser
- rs2149599601
- ClinGen CA359474468
- ClinVar RCV001732844
- ClinVar RCV002488497
- Uncertain significance
- not provided; Cornelia de Lange syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 16.80
- PolyPhen-2 0.04
- SIFT 0.31
- ClinVar: Uncertain significance (not provided; Cornelia de Lange syndrome 1)
- EBI: Variant of uncertain significance (in CDLS1)
- UniProt: Uncertain significance (in CDLS1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)