D86N (p.Asp86Asn) variant of NIPBL (Nipped-B-like protein)
D86N (p.Asp86Asn) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
D86N (p.Asp86Asn) variant details
- p.Asp86Asn
- rs1188531884
- ClinGen CA16609631
- ClinVar RCV002777412
- gnomAD rs1188531884
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.80
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- 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)