E14* (p.Glu14Ter) variant of NBN (Nibrin)
E14* (p.Glu14Ter) 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 0.32 / 1. The record also includes structural context.
E14* (p.Glu14Ter) variant details
- p.Glu14Ter
- rs745439506
- ClinGen CA371663736
- ClinVar RCV003470296
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.317
- AlphaMissense 0.19
- MetaLR 0.06
- MetaSVM -1.07
- PolyPhen-2 0.57
- SIFT 0.01
- MutPred 0.44
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available