L69P (p.Leu69Pro) variant of NIPBL (Nipped-B-like protein)
L69P (p.Leu69Pro) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cornelia de Lange syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
L69P (p.Leu69Pro) variant details
- p.Leu69Pro
- rs587783895
- ClinGen CA271995
- ClinVar RCV000146534
- Ensembl rs587783895
- Likely pathogenic
- Cornelia de Lange syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- ESM-1b 0.00
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Cornelia de Lange syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)