L65P (p.Leu65Pro) variant of NIPBL (Nipped-B-like protein)
L65P (p.Leu65Pro) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 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.
L65P (p.Leu65Pro) variant details
- p.Leu65Pro
- rs2478987276
- ClinGen CA359474409
- ClinVar RCV003604203
- Uncertain significance
- Cornelia de Lange syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- ESM-1b 0.00
- AlphaMissense 1.00
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)