P29Q (p.Pro29Gln) variant of NIPBL (Nipped-B-like protein)
P29Q (p.Pro29Gln) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CDLS1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes published literature and structural context.
P29Q (p.Pro29Gln) variant details
- p.Pro29Gln
- UniProt VAR 072997
- Pathogenic
- in CDLS1
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- ESM-1b 0.00
- AlphaMissense 1.00
- 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: NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in… (PMID 15146185)