N60S (p.Asn60Ser) variant of NIPBL (Nipped-B-like protein)
N60S (p.Asn60Ser) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not specified; NIPBL-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
N60S (p.Asn60Ser) variant details
- p.Asn60Ser
- rs142703446
- ClinGen CA3235749
- cosmic curated COSV56955
- ClinVar RCV000284905
- Benign/Likely benign
- Inborn genetic diseases; not specified; NIPBL-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not specified; NIPBL-related disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)