M1K (p.Met1Lys) variant of NIPBL (Nipped-B-like protein)
M1K (p.Met1Lys) 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 0.86 / 1. The record also includes published literature and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs121918264
- ClinGen CA252112
- ClinVar RCV000002221
- ClinVar RCV004700178
- Pathogenic/Likely pathogenic
- not provided; Cornelia de Lange syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- ESM-1b 0.64
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cornelia de Lange syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. (PMID 15146186)
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)