E36* (p.Glu36Ter) variant of NPC2 (P61916)
E36* (p.Glu36Ter) in NPC2 (P61916) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
E36* (p.Glu36Ter) variant details
- p.Glu36Ter
- rs2139670174
- ClinGen CA390532813
- ClinVar RCV001970052
- Ensembl rs2139670174
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.695
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)