E34* (p.Glu34Ter) variant of BTD (Biotinidase)
E34* (p.Glu34Ter) in BTD (Biotinidase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
E34* (p.Glu34Ter) variant details
- p.Glu34Ter
- rs397514338
- NCI-TCGA Cosmic COSV5772
- NCI-TCGA Cosmic COSV5773
- cosmic curated COSV57730
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.463
- AlphaMissense 0.07
- MetaLR 0.59
- MetaSVM -0.36
- PolyPhen-2 0.00
- SIFT 0.19
- MutPred 0.43
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available