N70I (p.Asn70Ile) variant of NIPBL (Nipped-B-like protein)
N70I (p.Asn70Ile) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CDLS1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes published literature and structural context.
N70I (p.Asn70Ile) variant details
- p.Asn70Ile
- UniProt VAR 072998
- Pathogenic
- in CDLS1
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- ESM-1b 0.00
- AlphaMissense 0.82
- EBI: Pathogenic (in CDLS1)
- UniProt: Pathogenic (in CDLS1)
- Structural context available
- Cited in: Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. (PMID 23254390)
- Cited in: NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in… (PMID 15146185)