V62L (p.Val62Leu) variant of NIPBL (Nipped-B-like protein)
V62L (p.Val62Leu) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes published literature and structural context.
V62L (p.Val62Leu) variant details
- p.Val62Leu
- rs2478987184
- ClinGen CA359474352
- ClinVar RCV002841068
- ClinVar RCV005036566
- Uncertain significance
- Cornelia de Lange syndrome 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- ESM-1b 0.00
- AlphaMissense 0.73
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 1; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)