S73L (p.Ser73Leu) variant of NIPBL (Nipped-B-like protein)
S73L (p.Ser73Leu) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in CDLS1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes published literature and structural context.
S73L (p.Ser73Leu) variant details
- p.Ser73Leu
- UniProt VAR 072999
- Uncertain significance
- in CDLS1
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- ESM-1b 0.00
- AlphaMissense 0.88
- EBI: Variant of uncertain significance (in CDLS1)
- UniProt: Uncertain significance (in CDLS1)
- Structural context available
- Cited in: Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations. (PMID 20124326)
- Cited in: NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in… (PMID 15146185)