E89K (p.Glu89Lys) variant of NIPBL (Nipped-B-like protein)
E89K (p.Glu89Lys) 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 NIPBL-related disorder; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
E89K (p.Glu89Lys) variant details
- p.Glu89Lys
- rs1000583856
- ClinGen CA117022594
- ClinVar RCV003414427
- ClinVar RCV004961279
- Uncertain significance
- NIPBL-related disorder; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- ESM-1b 0.00
- AlphaMissense 0.96
- MetaLR 0.88
- MetaSVM 0.86
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (NIPBL-related disorder; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)