Q53* (p.Gln53Ter) variant of NPC2 (P61916)
Q53* (p.Gln53Ter) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
Q53* (p.Gln53Ter) variant details
- p.Gln53Ter
- rs2086712337
- ClinGen CA390532698
- ClinVar RCV001170047
- Ensembl rs2086712337
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.603
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)