Y102* (p.Tyr102Ter) variant of NPC1 (O15118)
Y102* (p.Tyr102Ter) in NPC1 (O15118) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Y102* (p.Tyr102Ter) variant details
- p.Tyr102Ter
- rs751249367
- ClinGen CA401785903
- ClinVar RCV000702851
- ClinVar RCV001531279
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)