G15R (p.Gly15Arg) variant of NIPBL (Nipped-B-like protein)
G15R (p.Gly15Arg) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Cornelia de Lange syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes published literature and structural context.
G15R (p.Gly15Arg) variant details
- p.Gly15Arg
- UniProt VAR 072996
- Pathogenic/Likely pathogenic
- not provided; Cornelia de Lange syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- ESM-1b 0.00
- AlphaMissense 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cornelia de Lange syndrome 1)
- EBI: Pathogenic (in CDLS1)
- UniProt: Pathogenic (in CDLS1)
- Structural context available
- Cited in: Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. (PMID 21934712)
- Cited in: Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage. (PMID 28167679)