Q48* (p.Gln48Ter) variant of NPC2 (P61916)
Q48* (p.Gln48Ter) in NPC2 (P61916) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q48* (p.Gln48Ter) variant details
- p.Gln48Ter
- rs2086712538
- ClinGen CA390532732
- ClinVar RCV001263851
- Ensembl rs2086712538
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 32.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)