N70K (p.Asn70Lys) variant of NIPBL (Nipped-B-like protein)
N70K (p.Asn70Lys) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
N70K (p.Asn70Lys) variant details
- p.Asn70Lys
- rs756859262
- ClinGen CA3235752
- cosmic curated COSV10940
- ClinVar RCV002843271
- Uncertain significance
- Cornelia de Lange syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.94
- CADD 21.40
- PolyPhen-2 0.38
- SIFT 0.07
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 1)
- EBI: Variant of uncertain significance (in CDLS1)
- UniProt: Uncertain significance (in CDLS1)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)