L65V (p.Leu65Val) variant of NIPBL (Nipped-B-like protein)
L65V (p.Leu65Val) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L65V (p.Leu65Val) variant details
- p.Leu65Val
- rs925563626
- ClinGen CA117021547
- ClinVar RCV003604520
- TOPMed rs925563626
- Uncertain significance
- Cornelia de Lange syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.73
- ESM-1b 0.00
- AlphaMissense 0.89
- MetaLR 0.93
- MetaSVM 1.02
- CADD 24.50
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)