Y55* (p.Tyr55Ter) variant of NPC2 (P61916)
Y55* (p.Tyr55Ter) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Y55* (p.Tyr55Ter) variant details
- p.Tyr55Ter
- rs2086712268
- ClinGen CA390532680
- ClinVar RCV001963172
- ClinVar RCV006697568
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)