L19* (p.Leu19Ter) variant of NBN (Nibrin)
L19* (p.Leu19Ter) in NBN (Nibrin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
L19* (p.Leu19Ter) variant details
- p.Leu19Ter
- rs749263651
- ClinGen CA371663635
- ClinVar RCV001814388
- ExAC rs749263651
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.415
- AlphaMissense 0.41
- MetaLR 0.25
- MetaSVM -0.57
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.70
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available