L66V (p.Leu66Val) variant of NBN (Nibrin)
L66V (p.Leu66Val) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
L66V (p.Leu66Val) variant details
- p.Leu66Val
- rs1554568371
- ClinGen CA371662593
- ClinVar RCV000574071
- Ensembl rs1554568371
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- AlphaMissense 0.14
- MetaLR 0.55
- MetaSVM 0.01
- PolyPhen-2 1.00
- SIFT 0.07
- MutPred 0.71
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)